Inflammation of a muscle or muscle tissue.
Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.
A group of muscle diseases associated with abnormal mitochondria function.
A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
Progressive myopathies characterized by the presence of inclusion bodies on muscle biopsy. Sporadic and hereditary forms have been described. The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Familial forms usually begin in childhood and lack inflammatory changes. Both forms feature intracytoplasmic and intranuclear inclusions in muscle tissue. (Adams et al., Principles of Neurology, 6th ed, pp1409-10)
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.
A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.
An intermediate filament protein found predominantly in smooth, skeletal, and cardiac muscle cells. Localized at the Z line. MW 50,000 to 55,000 is species dependent.
An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)
A non-fibrillar collagen that forms a network of MICROFIBRILS within the EXTRACELLULAR MATRIX of CONNECTIVE TISSUE. The alpha subunits of collagen type VI assemble into antiparallel, overlapping dimers which then align to form tetramers.
A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).
A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)
Pathological conditions resulting from abnormal anabolism or catabolism of lipids in the body.
Substances that are toxic to blood in general, including the clotting mechanism; hematotoxins may refer to the hematopoietic system.
The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.
A transferase that catalyzes formation of PHOSPHOCREATINE from ATP + CREATINE. The reaction stores ATP energy as phosphocreatine. Three cytoplasmic ISOENZYMES have been identified in human tissues: the MM type from SKELETAL MUSCLE, the MB type from myocardial tissue and the BB type from nervous tissue as well as a mitochondrial isoenzyme. Macro-creatine kinase refers to creatine kinase complexed with other serum proteins.
The long cylindrical contractile organelles of STRIATED MUSCLE cells composed of ACTIN FILAMENTS; MYOSIN filaments; and other proteins organized in arrays of repeating units called SARCOMERES .
One of the alpha crystallin subunits. In addition to being expressed in the lens (LENS, CRYSTALLINE), alpha-crystallin B chain has been found in a variety of tissues such as HEART; BRAIN; MUSCLE; and KIDNEY. Accumulation of the protein in the brain is associated with NEURODEGENERATIVE DISEASES such as CREUTZFELDT-JAKOB SYNDROME and ALEXANDER DISEASE.
Contractile tissue that produces movement in animals.
Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body.
A member of the cofilin family of proteins that is expressed in MUSCLE CELLS. It has ACTIN depolymerization activity that is dependent on HYDROGEN-ION CONCENTRATION.
Embryonic (precursor) cells of the myogenic lineage that develop from the MESODERM. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes (MYOCYTES, SKELETAL; MYOCYTES, CARDIAC; MYOCYTES, SMOOTH MUSCLE).
Mitochondria of skeletal and smooth muscle. It does not include myocardial mitochondria for which MITOCHONDRIA, HEART is available.
A large class of structurally-related proteins that contain one or more LIM zinc finger domains. Many of the proteins in this class are involved in intracellular signaling processes and mediate their effects via LIM domain protein-protein interactions. The name LIM is derived from the first three proteins in which the motif was found: LIN-11, Isl1 and Mec-3.
Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.
A giant elastic protein of molecular mass ranging from 2,993 kDa (cardiac), 3,300 kDa (psoas), to 3,700 kDa (soleus) having a kinase domain. The amino- terminal is involved in a Z line binding, and the carboxy-terminal region is bound to the myosin filament with an overlap between the counter-connectin filaments at the M line.
A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)
Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (MUSCLE FIBERS, SKELETAL), cardiac (MYOCYTES, CARDIAC), and smooth (MYOCYTES, SMOOTH MUSCLE). They are derived from embryonic (precursor) muscle cells called MYOBLASTS.
A subtype of dynamin found ubiquitously expressed in a variety of tissues.
Genes that influence the PHENOTYPE only in the homozygous state.
Diagnosis of disease states by recording the spontaneous electrical activity of tissues or organs or by the response to stimulation of electrically excitable tissue.
Necrosis or disintegration of skeletal muscle often followed by myoglobinuria.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia.
The repeating contractile units of the MYOFIBRIL, delimited by Z bands along its length.
A tetrameric calcium release channel in the SARCOPLASMIC RETICULUM membrane of SMOOTH MUSCLE CELLS, acting oppositely to SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. It is important in skeletal and cardiac excitation-contraction coupling and studied by using RYANODINE. Abnormalities are implicated in CARDIAC ARRHYTHMIAS and MUSCULAR DISEASES.
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Recording of the changes in electric potential of muscle by means of surface or needle electrodes.
The physiological renewal, repair, or replacement of tissue.
Developmental events leading to the formation of adult muscular system, which includes differentiation of the various types of muscle cell precursors, migration of myoblasts, activation of myogenesis and development of muscle anchorage.
A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
Cytoplasmic filaments intermediate in diameter (about 10 nanometers) between the microfilaments and the microtubules. They may be composed of any of a number of different proteins and form a ring around the cell nucleus.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
The excitable plasma membrane of a muscle cell. (Glick, Glossary of Biochemistry and Molecular Biology, 1990)
A strain of mice arising from a spontaneous MUTATION (mdx) in inbred C57BL mice. This mutation is X chromosome-linked and produces viable homozygous animals that lack the muscle protein DYSTROPHIN, have high serum levels of muscle ENZYMES, and possess histological lesions similar to human MUSCULAR DYSTROPHY. The histological features, linkage, and map position of mdx make these mice a worthy animal model of DUCHENNE MUSCULAR DYSTROPHY.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
The larger subunits of MYOSINS. The heavy chains have a molecular weight of about 230 kDa and each heavy chain is usually associated with a dissimilar pair of MYOSIN LIGHT CHAINS. The heavy chains possess actin-binding and ATPase activity.
Membrane glycoproteins consisting of an alpha subunit and a BETA 2-MICROGLOBULIN beta subunit. In humans, highly polymorphic genes on CHROMOSOME 6 encode the alpha subunits of class I antigens and play an important role in determining the serological specificity of the surface antigen. Class I antigens are found on most nucleated cells and are generally detected by their reactivity with alloantisera. These antigens are recognized during GRAFT REJECTION and restrict cell-mediated lysis of virus-infected cells.
Any spaces or cavities within a cell. They may function in digestion, storage, secretion, or excretion.
A protein found in the thin filaments of muscle fibers. It inhibits contraction of the muscle unless its position is modified by TROPONIN.
Electron microscopy in which the ELECTRONS or their reaction products that pass down through the specimen are imaged below the plane of the specimen.
A process leading to shortening and/or development of tension in muscle tissue. Muscle contraction occurs by a sliding filament mechanism whereby actin filaments slide inward among the myosin filaments.
Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides.
Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed)
A characteristic symptom complex.
Biochemical identification of mutational changes in a nucleotide sequence.
An exotic species of the family CYPRINIDAE, originally from Asia, that has been introduced in North America. They are used in embryological studies and to study the effects of certain chemicals on development.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The segregation and degradation of damaged or unwanted cytoplasmic constituents by autophagic vacuoles (cytolysosomes) composed of LYSOSOMES containing cellular components in the process of digestion; it plays an important role in BIOLOGICAL METAMORPHOSIS of amphibians, in the removal of bone by osteoclasts, and in the degradation of normal cell components in nutritional deficiency states.
A multisubunit enzyme complex containing CYTOCHROME A GROUP; CYTOCHROME A3; two copper atoms; and 13 different protein subunits. It is the terminal oxidase complex of the RESPIRATORY CHAIN and collects electrons that are transferred from the reduced CYTOCHROME C GROUP and donates them to molecular OXYGEN, which is then reduced to water. The redox reaction is simultaneously coupled to the transport of PROTONS across the inner mitochondrial membrane.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
Agents that suppress immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-CELLS or by inhibiting the activation of HELPER CELLS. While immunosuppression has been brought about in the past primarily to prevent rejection of transplanted organs, new applications involving mediation of the effects of INTERLEUKINS and other CYTOKINES are emerging.
The muscle tissue of the HEART. It is composed of striated, involuntary muscle cells (MYOCYTES, CARDIAC) connected to form the contractile pump to generate blood flow.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Filamentous proteins that are the main constituent of the thin filaments of muscle fibers. The filaments (known also as filamentous or F-actin) can be dissociated into their globular subunits; each subunit is composed of a single polypeptide 375 amino acids long. This is known as globular or G-actin. In conjunction with MYOSINS, actin is responsible for the contraction and relaxation of muscle.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
Established cell cultures that have the potential to propagate indefinitely.
Differentiation antigens residing on mammalian leukocytes. CD stands for cluster of differentiation, which refers to groups of monoclonal antibodies that show similar reactivity with certain subpopulations of antigens of a particular lineage or differentiation stage. The subpopulations of antigens are also known by the same CD designation.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
The major interferon produced by mitogenically or antigenically stimulated LYMPHOCYTES. It is structurally different from TYPE I INTERFERON and its major activity is immunoregulation. It has been implicated in the expression of CLASS II HISTOCOMPATIBILITY ANTIGENS in cells that do not normally produce them, leading to AUTOIMMUNE DISEASES.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
Inbred C57BL mice are a strain of laboratory mice that have been produced by many generations of brother-sister matings, resulting in a high degree of genetic uniformity and homozygosity, making them widely used for biomedical research, including studies on genetics, immunology, cancer, and neuroscience.
Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.
A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes.

Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. (1/87)

The lipid second messenger phosphatidylinositol 3-phosphate [PI(3)P] plays a crucial role in intracellular membrane trafficking. We report here that myotubularin, a protein tyrosine phosphatase required for muscle cell differentiation, is a potent PI(3)P phosphatase. Recombinant human myotubularin specifically dephosphorylates PI(3)P in vitro. Overexpression of a catalytically inactive substrate-trapping myotubularin mutant (C375S) in human 293 cells increases PI(3)P levels relative to that of cells overexpressing the wild-type enzyme, demonstrating that PI(3)P is a substrate for myotubularin in vivo. In addition, a Saccharomyces cerevisiae strain in which the myotubularin-like gene (YJR110w) is disrupted also exhibits increased PI(3)P levels. Both the recombinant yeast enzyme and a human myotubularin-related protein (KIAA0371) are able to dephosphorylate PI(3)P in vitro, suggesting that this activity is intrinsic to all myotubularin family members. Mutations in the MTM1 gene that cause human myotubular myopathy dramatically reduce the ability of the phosphatase to dephosphorylate PI(3)P. Our findings provide evidence that myotubularin exerts its effects during myogenesis by regulating cellular levels of the inositol lipid PI(3)P.  (+info)

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. (2/87)

Myotubular myopathy (MTM1) is an X-linked disease, characterized by severe neonatal hypotonia and generalized muscle weakness, with pathological features suggesting an impairment in maturation of muscle fibres. The MTM1 gene encodes a protein (myotubularin) with a phosphotyrosine phosphatase consensus. It defines a family of at least nine genes in man, including the antiphosphatase hMTMR5/Sbf1 and hMTMR2, recently found mutated in a recessive form of Charcot-Marie-Tooth disease. Myotubularin shows a dual specificity protein phosphatase activity in vitro. We have performed an in vivo test of tyrosine phosphatase activity in Schizosaccharomyces pombe, indicating that myotubularin does not have a broad specificity tyrosine phosphatase activity. Expression of active human myotubularin inhibited growth of S.pombe and induced a vacuolar phenotype similar to that of mutants of the vacuolar protein sorting (VPS) pathway and notably of mutants of VPS34, a phosphatidylinositol 3-kinase (PI3K). In S.pombe cells deleted for the endogenous MTM homologous gene, expression of human myotubularin decreased the level of phosphatidylinositol 3-phosphate (PI3P). We have created a substrate trap mutant which shows relocalization to plasma membrane projections (spikes) in HeLa cells and was inactive in the S.pombe assay. This mutant, but not the wild-type or a phosphatase site mutant, was able to immunoprecipitate a VPS34 kinase activity. Wild-type myotubularin was also able to directly dephosphorylate PI3P and PI4P in vitro. Myotubularin may thus decrease PI3P levels by down-regulating PI3K activity and by directly degrading PI3P.  (+info)

Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy. (3/87)

Cypher is a member of a recently emerging family of proteins containing a PDZ domain at their NH(2) terminus and one or three LIM domains at their COOH terminus. Cypher knockout mice display a severe form of congenital myopathy and die postnatally from functional failure in multiple striated muscles. Examination of striated muscle from the mutants revealed that Cypher is not required for sarcomerogenesis or Z-line assembly, but rather is required for maintenance of the Z-line during muscle function. In vitro studies demonstrated that individual domains within Cypher localize independently to the Z-line via interactions with alpha-actinin or other Z-line components. These results suggest that Cypher functions as a linker-strut to maintain cytoskeletal structure during contraction.  (+info)

Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. (4/87)

Myotubularin is the archetype of a family of highly conserved protein-tyrosine phosphatase-like enzymes. The myotubularin gene, MTM1, is mutated in the genetic disorder, X-linked myotubular myopathy. We and others have previously shown that myotubularin utilizes the lipid second messenger, phosphatidylinositol 3-phosphate (PI(3)P), as a physiologic substrate. We demonstrate here that the myotubularin-related protein MTMR2, which is mutated in the neurodegenerative disorder, type 4B Charcot-Marie-Tooth disease, is also highly specific for PI(3)P as a substrate. Furthermore, the MTM-related phosphatases MTMR1, MTMR3, and MTMR6 also dephosphorylate PI(3)P, suggesting that activity toward this substrate is common to all myotubularin family enzymes. A direct comparison of the lipid phosphatase activities of recombinant myotubularin and MTMR2 demonstrates that their enzymatic properties are indistinguishable, indicating that the lack of functional redundancy between these proteins is likely to be due to factors other than the utilization of different physiologic substrates. To this end, we have analyzed myotubularin and MTMR2 transcripts during induced differentiation of cultured murine C2C12 myoblasts and find that their expression is divergently regulated. In addition, myotubularin and MTMR2 enhanced green fluorescent protein fusion proteins exhibit overlapping but distinct patterns of subcellular localization. Finally, we provide evidence that myotubularin, but not MTMR2, can modulate the levels of endosomal PI(3)P. From these data, we conclude that the developmental expression and subcellular localization of myotubularin and MTMR2 are differentially regulated, resulting in their utilization of specific cellular pools of PI(3)P.  (+info)

The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. (5/87)

Myotubularin, the phosphatase mutated in X-linked myotubular myopathy, was shown to dephosphorylate phosphatidylinositol 3-monophosphate (PtdIns3P) and was also reported to interact with nuclear transcriptional regulators from the trithorax family. We have characterized a panel of specific antibodies and investigated the subcellular localization of myotubularin. Myotubularin is not detected in the nucleus, and localizes mostly as a dense cytoplasmic network. Overexpression of myotubularin does not detectably affect vesicle trafficking in the mammalian cells investigated, in contrast to previous observations in yeast models. Both mutation of a key aspartate residue of myotubularin and dominant activation of Rac1 GTPase lead to the recruitment of myotubularin to specific plasma membrane domains. Localization to Rac1-induced ruffles is dependent on the presence of a domain highly conserved in the myotubularin family (that we named RID). We thus propose that myotubularin may dephosphorylate a subpool of PtdIns3P (or another related substrate) at the plasma membrane.  (+info)

Tubular aggregate myopathy with abnormal pupils and skeletal deformities. (6/87)

A patient is described with a novel syndrome characterised by progressive muscular weakness, contractures, pupillary muscle dysfunction, and skeletal deformity. The main myopathological feature was an abundance of tubular aggregates in both type I and type II muscle fibres. Myopathies in which tubular aggregates are the defining feature are rare and either present with progressive muscle weakness or exercise induced myalgia. Tubular aggregate myopathy with symptomatic smooth muscle dysfunction and skeletal deformities has not been described before.  (+info)

Tubular aggregate myopathy: a case report. (7/87)

We report a first Korean case of presumably dominantly inherited primary tubular aggregate myopathy in a 19-yr-old man, who presented with slowly progressive proximal muscle stiffness and weakness. In hematoxylin and eosin stain, it showed subsarcolemmal, or central pale basophilic granular vacuoles, which stained red with modified Gomori's trichrome and intensive blue with nicotinamide adenonine dinucleotide-tetrazolium reductase, respectively. Ultrastructurally, aggregates of 60 nm-sized hexagonal tubules were found in both type 1 and type 2 fibers. We briefly review the pathologic findings of the previously reported cases of tubular aggregate myopathy and discuss the possible pathogenesis of this disease. We briefly discuss the possible pathogenesis of sarcoplasmic reticulum and review the ultrastructural characteristics.  (+info)

Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. (8/87)

Myotubularin is a dual-specific phosphatase that dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bisphosphate. Mutations in myotubularin result in the human disease X-linked myotubular myopathy, characterized by persistence of muscle fibers that retain an immature phenotype. We have previously reported the identification of the 3-phosphatase adapter protein (3-PAP), a catalytically inactive member of the myotubularin gene family, which coprecipitates lipid phosphatidylinositol 3-phosphate-3-phosphatase activity from lysates of human platelets. We have now identified myotubularin as the catalytically active 3-phosphatase subunit interacting with 3-PAP. A 65-kDa polypeptide, coprecipitating with endogenous 3-PAP, was purified from SDS/PAGE, subjected to trypsin digestion, and analyzed by collision-induced dissociation tandem MS. Three peptides derived from human myotubularin were identified. Association between 3-PAP and myotubularin was confirmed by reciprocal coimmunoprecipitation of both endogenous and recombinant proteins expressed in K562 cells. Recombinant myotubularin localized to the plasma membrane, causing extensive filopodia formation. However, coexpression of 3-PAP with myotubularin led to attenuation of the plasma membrane phenotype, associated with myotubularin relocalization to the cytosol. Collectively these studies indicate 3-PAP functions as an "adapter" for myotubularin, regulating myotubularin intracellular location and thereby altering the phenotype resulting from myotubularin overexpression.  (+info)

Myositis is a medical term that refers to inflammation of the muscle tissue. This condition can cause various symptoms, including muscle weakness, pain, swelling, and stiffness. There are several types of myositis, such as polymyositis, dermatomyositis, and inclusion body myositis, which have different causes and characteristics.

Polymyositis is a type of myositis that affects multiple muscle groups, particularly those close to the trunk of the body. Dermatomyositis is characterized by muscle inflammation as well as a skin rash. Inclusion body myositis is a less common form of myositis that typically affects older adults and can cause both muscle weakness and wasting.

The causes of myositis vary depending on the type, but they can include autoimmune disorders, infections, medications, and other medical conditions. Treatment for myositis may involve medication to reduce inflammation, physical therapy to maintain muscle strength and flexibility, and lifestyle changes to manage symptoms and prevent complications.

Muscular diseases, also known as myopathies, refer to a group of conditions that affect the functionality and health of muscle tissue. These diseases can be inherited or acquired and may result from inflammation, infection, injury, or degenerative processes. They can cause symptoms such as weakness, stiffness, cramping, spasms, wasting, and loss of muscle function.

Examples of muscular diseases include:

1. Duchenne Muscular Dystrophy (DMD): A genetic disorder that results in progressive muscle weakness and degeneration due to a lack of dystrophin protein.
2. Myasthenia Gravis: An autoimmune disease that causes muscle weakness and fatigue, typically affecting the eyes and face, throat, and limbs.
3. Inclusion Body Myositis (IBM): A progressive muscle disorder characterized by muscle inflammation and wasting, typically affecting older adults.
4. Polymyositis: An inflammatory myopathy that causes muscle weakness and inflammation throughout the body.
5. Metabolic Myopathies: A group of inherited disorders that affect muscle metabolism, leading to exercise intolerance, muscle weakness, and other symptoms.
6. Muscular Dystonias: Involuntary muscle contractions and spasms that can cause abnormal postures or movements.

It is important to note that muscular diseases can have a significant impact on an individual's quality of life, mobility, and overall health. Proper diagnosis and treatment are crucial for managing symptoms and improving outcomes.

Congenital structural myopathies are a group of inherited genetic disorders that affect the structure and function of skeletal muscles. These conditions are present at birth or develop in early infancy and are caused by genetic mutations that lead to abnormalities in the muscle contractile apparatus, including the sarcomere, muscle filaments, and muscle membrane.

The structural abnormalities can affect the muscle fibers' ability to generate force, leading to muscle weakness, hypotonia (low muscle tone), and other symptoms. The severity of the condition can vary widely, from mild to severe, depending on the specific type of myopathy and the extent of muscle involvement.

Examples of congenital structural myopathies include:

1. Congenital fiber-type disproportion (CFTD): a condition characterized by small, atrophic type 1 muscle fibers and normal or enlarged type 2 fibers.
2. Central core disease (CCD): a condition caused by mutations in the ryanodine receptor gene, which leads to the formation of abnormal structures called cores within the muscle fibers.
3. Nemaline myopathy: a condition characterized by the presence of rod-shaped structures called nemalines in the muscle fibers.
4. Myotubular myopathy: a condition caused by mutations in the myotubularin gene, which leads to abnormalities in the muscle fiber nuclei and weakened muscle function.
5. Congenital muscular dystrophy (CMD): a group of conditions characterized by muscle weakness, hypotonia, and joint contractures, often associated with structural abnormalities in the muscle membrane or extracellular matrix.

Diagnosis of congenital structural myopathies typically involves a combination of clinical evaluation, genetic testing, and muscle biopsy. Treatment is generally supportive and may include physical therapy, orthotics, and assistive devices to help manage symptoms and improve function. In some cases, medications or surgical interventions may be necessary to address specific complications.

Distal myopathies are a group of rare genetic muscle disorders that primarily affect the muscles of the hands, feet, and lower legs. These myopathies are characterized by progressive weakness and wasting (atrophy) of the distal muscles, which are located further from the center of the body. The onset of symptoms can vary widely, ranging from early childhood to late adulthood.

There are several different types of distal myopathies, each caused by mutations in specific genes that affect muscle function. Some common forms include:

1. Nonaka Distal Myopathy: This form is caused by mutations in the GNE gene and typically presents in the third or fourth decade of life with weakness and wasting of the ankle dorsiflexors, foot extensors, and wrist and finger extensors.

2. Miyoshi Distal Myopathy: This form is caused by mutations in the DYSF gene and affects the calf muscles initially, followed by weakness in other distal muscles over time.

3. Welander Distal Myopathy: This form is caused by mutations in the TIA1 gene and typically presents in adulthood with weakness and wasting of the hand and forearm muscles.

4. Laing Distal Myopathy: This form is caused by mutations in the CAV3 gene and affects the anterior compartment of the lower leg, resulting in foot drop and weakness of the ankle dorsiflexors.

5. Gowers Distal Myopathy: This form is caused by mutations in the HNRNPDL gene and typically presents in adulthood with weakness and wasting of the hand and forearm muscles, as well as foot drop.

There is no cure for distal myopathies, but treatment can help manage symptoms and improve quality of life. Physical therapy, bracing, and orthotics may be used to support weakened muscles and maintain mobility. In some cases, medications such as corticosteroids or immunosuppressants may be prescribed to reduce muscle inflammation and slow disease progression.

Mitochondrial myopathies are a group of genetic disorders caused by mutations in the mitochondrial DNA or nuclear DNA that affect the function of the mitochondria, which are the energy-producing structures in cells. These mutations can result in impaired muscle function and other symptoms, depending on the specific type and severity of the disorder.

Mitochondrial myopathies can present at any age and can cause a range of symptoms, including muscle weakness, exercise intolerance, fatigue, muscle pain, and difficulty with coordination and balance. Some people with mitochondrial myopathies may also experience neurological symptoms such as seizures, developmental delays, and hearing or vision loss.

The diagnosis of mitochondrial myopathies typically involves a combination of clinical evaluation, muscle biopsy, genetic testing, and other diagnostic tests to assess mitochondrial function. Treatment is generally supportive and may include physical therapy, medications to manage symptoms, and nutritional support. In some cases, specific therapies such as vitamin or coenzyme Q10 supplementation may be recommended based on the underlying genetic defect.

Nemaline myopathy is a genetic muscle disorder characterized by the presence of rod-like structures called nemalines in the muscle fibers. These rods, which are composed of accumulated protein, can be observed under a microscope in biopsied muscle tissue. The condition is typically present at birth or appears in early childhood and is often associated with muscle weakness, hypotonia (low muscle tone), and delayed motor development.

There are several types of nemaline myopathy, which vary in severity and age of onset. Some individuals with the disorder may have only mild symptoms and be able to lead relatively normal lives, while others may experience significant disability and require assistance with daily activities. The condition can also affect the heart and respiratory muscles, leading to serious complications.

Nemaline myopathy is caused by mutations in one of several genes that are involved in the formation and maintenance of muscle fibers. These genetic defects lead to abnormalities in the structure and function of the muscle fibers, resulting in the characteristic symptoms of the disorder. There is currently no cure for nemaline myopathy, but treatment is focused on managing the symptoms and improving quality of life. This may include physical therapy, assistive devices, and respiratory support, as well as medications to help manage muscle spasticity and other complications.

Inclusion body myositis (IBM) is a rare inflammatory muscle disease characterized by progressive weakness and wasting (atrophy) of skeletal muscles. The term "inclusion body" refers to the presence of abnormal protein accumulations within muscle fibers, which are observed under a microscope during muscle biopsy. These inclusions are primarily composed of aggregated forms of amyloid-β and tau proteins, similar to those found in neurodegenerative disorders like Alzheimer's disease.

IBM typically affects individuals over 50 years old, and it is more common in men than women. The disease usually starts with weakness in the wrist and finger flexors, making it difficult to perform tasks such as gripping, buttoning shirts, or lifting objects. Over time, the weakness spreads to other muscle groups, including the thigh muscles (quadriceps), resulting in difficulty climbing stairs or rising from a seated position.

The exact cause of inclusion body myositis remains unclear; however, both immune-mediated and degenerative mechanisms are believed to contribute to its pathogenesis. Currently, there is no cure for IBM, and treatment options are primarily aimed at managing symptoms and improving quality of life. Immunosuppressive medications may be used to target the inflammatory component of the disease; however, their efficacy varies among patients. Physical therapy and exercise programs can help maintain muscle strength and function as much as possible.

Muscular dystrophies are a group of genetic disorders that primarily affect skeletal muscles, causing progressive weakness and degeneration. They are characterized by the lack or deficiency of a protein called dystrophin, which is essential for maintaining the integrity of muscle fibers. The most common form is Duchenne muscular dystrophy (DMD), but there are many other types with varying symptoms and severity. Over time, muscle wasting and weakness can lead to disability and shortened lifespan, depending on the type and progression of the disease. Treatment typically focuses on managing symptoms, maintaining mobility, and supporting quality of life.

Skeletal muscle, also known as striated or voluntary muscle, is a type of muscle that is attached to bones by tendons or aponeuroses and functions to produce movements and support the posture of the body. It is composed of long, multinucleated fibers that are arranged in parallel bundles and are characterized by alternating light and dark bands, giving them a striped appearance under a microscope. Skeletal muscle is under voluntary control, meaning that it is consciously activated through signals from the nervous system. It is responsible for activities such as walking, running, jumping, and lifting objects.

Neuromuscular diseases are a group of disorders that involve the peripheral nervous system, which includes the nerves and muscles outside of the brain and spinal cord. These conditions can affect both children and adults, and they can be inherited or acquired. Neuromuscular diseases can cause a wide range of symptoms, including muscle weakness, numbness, tingling, pain, cramping, and twitching. Some common examples of neuromuscular diseases include muscular dystrophy, amyotrophic lateral sclerosis (ALS), peripheral neuropathy, and myasthenia gravis. The specific symptoms and severity of these conditions can vary widely depending on the underlying cause and the specific muscles and nerves that are affected. Treatment for neuromuscular diseases may include medications, physical therapy, assistive devices, or surgery, depending on the individual case.

Desmin is a type of intermediate filament protein that is primarily found in the cardiac and skeletal muscle cells, as well as in some types of smooth muscle cells. It is an important component of the cytoskeleton, which provides structural support to the cell and helps maintain its shape. Desmin plays a crucial role in maintaining the integrity of the sarcomere, which is the basic contractile unit of the muscle fiber. Mutations in the desmin gene can lead to various forms of muscular dystrophy and other inherited muscle disorders.

Central core myopathy is a rare genetic muscle disorder that is typically present at birth or appears in early childhood. It is characterized by the presence of distinctive rod-like structures, called cores, in the center of the muscle fibers. These cores are devoid of normal mitochondria and other organelles, which can lead to muscle weakness and wasting.

Central core myopathy is often associated with mutations in the ryanodine receptor 1 (RYR1) gene, which provides instructions for making a protein that plays a critical role in calcium signaling within muscles. Abnormalities in calcium signaling can lead to muscle weakness and wasting.

The symptoms of central core myopathy can vary widely, even among members of the same family with the same genetic mutation. Some people with this condition may have only mild muscle weakness, while others may be severely affected and have difficulty walking or performing other physical activities. The condition typically does not worsen over time, and life expectancy is usually normal. However, some people with central core myopathy may be at increased risk of malignant hyperthermia, a potentially life-threatening reaction to certain anesthetics.

Collagen Type VI is a type of collagen that is widely expressed in various tissues, including skeletal muscle, skin, and blood vessels. It is a major component of the extracellular matrix and plays important roles in maintaining tissue structure and function. Collagen Type VI forms microfilaments that provide structural support to the basement membrane and regulate cell-matrix interactions. Mutations in the genes encoding collagen Type VI can lead to several inherited connective tissue disorders, such as Bethlem myopathy and Ullrich congenital muscular dystrophy.

Limb-girdle muscular dystrophy (LGMD) is a group of rare inherited disorders that cause progressive weakness and wasting of the muscles in the arms and legs, particularly those around the shoulders and hips (the limb-girdle region). The condition affects both males and females and presents at different ages, depending on the specific type of LGMD.

LGMD is caused by mutations in various genes that play a role in maintaining muscle integrity and function. These genetic defects lead to a deficiency or dysfunction of certain proteins necessary for muscle health, ultimately resulting in muscle degeneration and weakness. There are more than 30 different subtypes of LGMD, each with its own set of causative genes and inheritance patterns (autosomal dominant or autosomal recessive).

Symptoms of limb-girdle muscular dystrophy may include:

1. Progressive muscle weakness and wasting in the arms, legs, shoulders, and hips
2. Difficulty with activities such as climbing stairs, lifting objects, or getting up from a seated position
3. Enlarged calf muscles (pseudohypertrophy) due to muscle degeneration and fat replacement
4. Muscle contractures, joint stiffness, and limited range of motion
5. Difficulty walking, using wheelchair assistance in advanced stages
6. Respiratory complications due to weakened chest muscles in some cases

Diagnosis of LGMD typically involves a combination of clinical evaluation, family history, muscle biopsy, genetic testing, and blood tests for creatine kinase (CK) levels, which are often elevated in muscular dystrophies. Treatment is primarily supportive and focuses on maintaining mobility, preventing complications, and preserving quality of life through physical therapy, assistive devices, and orthopedic interventions as needed. No cure currently exists for limb-girdle muscular dystrophy, but ongoing research aims to develop targeted therapies based on the underlying genetic defects.

Muscle weakness is a condition in which muscles cannot develop the expected level of physical force or power. This results in reduced muscle function and can be caused by various factors, including nerve damage, muscle diseases, or hormonal imbalances. Muscle weakness may manifest as difficulty lifting objects, maintaining posture, or performing daily activities. It is essential to consult a healthcare professional for proper diagnosis and treatment of muscle weakness.

Lipid metabolism disorders are a group of conditions that result from abnormalities in the breakdown, transport, or storage of lipids (fats) in the body. These disorders can lead to an accumulation of lipids in various tissues and organs, causing them to function improperly.

There are several types of lipid metabolism disorders, including:

1. Hyperlipidemias: These are conditions characterized by high levels of cholesterol or triglycerides in the blood. They can increase the risk of cardiovascular disease and pancreatitis.
2. Hypercholesterolemia: This is a condition characterized by high levels of low-density lipoprotein (LDL) cholesterol, also known as "bad" cholesterol, in the blood. It can increase the risk of cardiovascular disease.
3. Hypocholesterolemias: These are conditions characterized by low levels of cholesterol in the blood. Some of these disorders may be associated with an increased risk of cancer and neurological disorders.
4. Hypertriglyceridemias: These are conditions characterized by high levels of triglycerides in the blood. They can increase the risk of pancreatitis and cardiovascular disease.
5. Lipodystrophies: These are conditions characterized by abnormalities in the distribution of body fat, which can lead to metabolic abnormalities such as insulin resistance, diabetes, and high levels of triglycerides.
6. Disorders of fatty acid oxidation: These are conditions that affect the body's ability to break down fatty acids for energy, leading to muscle weakness, liver dysfunction, and in some cases, life-threatening neurological complications.

Lipid metabolism disorders can be inherited or acquired, and their symptoms and severity can vary widely depending on the specific disorder and the individual's overall health status. Treatment may include lifestyle changes, medications, and dietary modifications to help manage lipid levels and prevent complications.

Hemolytic agents are substances that cause the destruction or lysis of red blood cells, leading to the release of hemoglobin into the plasma. This process is known as hemolysis. Hemolytic agents can be classified into two categories: intrinsic and extrinsic. Intrinsic hemolytic agents are present within the body, such as enzymes or antibodies, while extrinsic hemolytic agents come from external sources, like certain medications, chemicals, or infections. Hemolysis can result in anemia, jaundice, and kidney damage if not properly managed.

Muscle proteins are a type of protein that are found in muscle tissue and are responsible for providing structure, strength, and functionality to muscles. The two major types of muscle proteins are:

1. Contractile proteins: These include actin and myosin, which are responsible for the contraction and relaxation of muscles. They work together to cause muscle movement by sliding along each other and shortening the muscle fibers.
2. Structural proteins: These include titin, nebulin, and desmin, which provide structural support and stability to muscle fibers. Titin is the largest protein in the human body and acts as a molecular spring that helps maintain the integrity of the sarcomere (the basic unit of muscle contraction). Nebulin helps regulate the length of the sarcomere, while desmin forms a network of filaments that connects adjacent muscle fibers together.

Overall, muscle proteins play a critical role in maintaining muscle health and function, and their dysregulation can lead to various muscle-related disorders such as muscular dystrophy, myopathies, and sarcopenia.

Creatine kinase (CK) is a muscle enzyme that is normally present in small amounts in the blood. It is primarily found in tissues that require a lot of energy, such as the heart, brain, and skeletal muscles. When these tissues are damaged or injured, CK is released into the bloodstream, causing the levels to rise.

Creatine kinase exists in several forms, known as isoenzymes, which can be measured in the blood to help identify the location of tissue damage. The three main isoenzymes are:

1. CK-MM: Found primarily in skeletal muscle
2. CK-MB: Found primarily in heart muscle
3. CK-BB: Found primarily in the brain

Elevated levels of creatine kinase, particularly CK-MB, can indicate damage to the heart muscle, such as occurs with a heart attack. Similarly, elevated levels of CK-BB may suggest brain injury or disease. Overall, measuring creatine kinase levels is a useful diagnostic tool for assessing tissue damage and determining the severity of injuries or illnesses.

Myofibrils are the basic contractile units of muscle fibers, composed of highly organized arrays of thick and thin filaments. They are responsible for generating the force necessary for muscle contraction. The thick filaments are primarily made up of the protein myosin, while the thin filaments are mainly composed of actin. Myofibrils are surrounded by a membrane called the sarcolemma and are organized into repeating sections called sarcomeres, which are the functional units of muscle contraction.

Alpha-Crystallin B chain is a protein that is a component of the eye lens. It is one of the two subunits of the alpha-crystallin protein, which is a major structural protein in the lens and helps to maintain the transparency and refractive properties of the lens. Alpha-Crystallin B chain is produced by the CRYAB gene and has chaperone-like properties, helping to prevent the aggregation of other proteins and contributing to the maintenance of lens clarity. Mutations in the CRYAB gene can lead to various eye disorders, including cataracts and certain types of glaucoma.

A muscle is a soft tissue in our body that contracts to produce force and motion. It is composed mainly of specialized cells called muscle fibers, which are bound together by connective tissue. There are three types of muscles: skeletal (voluntary), smooth (involuntary), and cardiac. Skeletal muscles attach to bones and help in movement, while smooth muscles are found within the walls of organs and blood vessels, helping with functions like digestion and circulation. Cardiac muscle is the specific type that makes up the heart, allowing it to pump blood throughout the body.

A biopsy is a medical procedure in which a small sample of tissue is taken from the body to be examined under a microscope for the presence of disease. This can help doctors diagnose and monitor various medical conditions, such as cancer, infections, or autoimmune disorders. The type of biopsy performed will depend on the location and nature of the suspected condition. Some common types of biopsies include:

1. Incisional biopsy: In this procedure, a surgeon removes a piece of tissue from an abnormal area using a scalpel or other surgical instrument. This type of biopsy is often used when the lesion is too large to be removed entirely during the initial biopsy.

2. Excisional biopsy: An excisional biopsy involves removing the entire abnormal area, along with a margin of healthy tissue surrounding it. This technique is typically employed for smaller lesions or when cancer is suspected.

3. Needle biopsy: A needle biopsy uses a thin, hollow needle to extract cells or fluid from the body. There are two main types of needle biopsies: fine-needle aspiration (FNA) and core needle biopsy. FNA extracts loose cells, while a core needle biopsy removes a small piece of tissue.

4. Punch biopsy: In a punch biopsy, a round, sharp tool is used to remove a small cylindrical sample of skin tissue. This type of biopsy is often used for evaluating rashes or other skin abnormalities.

5. Shave biopsy: During a shave biopsy, a thin slice of tissue is removed from the surface of the skin using a sharp razor-like instrument. This technique is typically used for superficial lesions or growths on the skin.

After the biopsy sample has been collected, it is sent to a laboratory where a pathologist will examine the tissue under a microscope and provide a diagnosis based on their findings. The results of the biopsy can help guide further treatment decisions and determine the best course of action for managing the patient's condition.

Cofilin 2 is a type of actin-depolymerizing protein that belongs to the cofilin family. It is primarily expressed in the nervous system and plays a crucial role in regulating the dynamics of actin filaments, which are essential components of the cytoskeleton. Cofilin 2 helps to sever and depolymerize actin filaments, allowing for their reorganization during various cellular processes such as cell division, motility, and intracellular transport.

Mutations in the gene that encodes cofilin 2 (CFL2) have been associated with certain neurological disorders, including early-onset epileptic encephalopathy and severe intellectual disability. These genetic changes can lead to altered cofilin 2 function, which may contribute to abnormal neuronal development and function, ultimately resulting in the observed clinical phenotypes.

Myoblasts are types of cells that are responsible for the development and growth of muscle tissue in the body. They are undifferentiated cells, meaning they have not yet developed into their final form or function. Myoblasts fuse together to form myotubes, which then develop into muscle fibers, also known as myofibers. This process is called myogenesis and it plays a crucial role in the growth, repair, and maintenance of skeletal muscle tissue throughout an individual's life.

Myoblasts can be derived from various sources, including embryonic stem cells, induced pluripotent stem cells, or satellite cells, which are adult stem cells found within mature muscle tissue. Satellite cells are typically quiescent but can be activated in response to muscle damage or injury, proliferate and differentiate into myoblasts, and fuse together to repair and replace damaged muscle fibers.

Dysregulation of myogenesis and impaired myoblast function have been implicated in various muscle-related disorders, including muscular dystrophies, sarcopenia, and cachexia. Therefore, understanding the biology of myoblasts and their role in muscle development and regeneration is an important area of research with potential therapeutic implications for muscle-related diseases.

Mitochondria in muscle, also known as the "powerhouses" of the cell, are organelles that play a crucial role in generating energy for muscle cells through a process called cellular respiration. They convert the chemical energy found in glucose and oxygen into ATP (adenosine triphosphate), which is the main source of energy used by cells.

Muscle cells contain a high number of mitochondria due to their high energy demands for muscle contraction and relaxation. The number and size of mitochondria in muscle fibers can vary depending on the type of muscle fiber, with slow-twitch, aerobic fibers having more numerous and larger mitochondria than fast-twitch, anaerobic fibers.

Mitochondrial dysfunction has been linked to various muscle disorders, including mitochondrial myopathies, which are characterized by muscle weakness, exercise intolerance, and other symptoms related to impaired energy production in the muscle cells.

LIM domain proteins are a group of transcription factors that contain LIM domains, which are cysteine-rich zinc-binding motifs. These proteins play crucial roles in various cellular processes such as gene regulation, cell proliferation, differentiation, and migration. They are involved in the development and functioning of several organ systems including the nervous system, cardiovascular system, and musculoskeletal system. LIM domain proteins can interact with other proteins and DNA to regulate gene expression and have been implicated in various diseases such as cancer and neurological disorders.

Muscular atrophy is a condition characterized by a decrease in the size and mass of muscles due to lack of use, disease, or injury. This occurs when there is a disruption in the balance between muscle protein synthesis and degradation, leading to a net loss of muscle proteins. There are two main types of muscular atrophy:

1. Disuse atrophy: This type of atrophy occurs when muscles are not used or are immobilized for an extended period, such as after an injury, surgery, or prolonged bed rest. In this case, the nerves that control the muscles may still be functioning properly, but the muscles themselves waste away due to lack of use.
2. Neurogenic atrophy: This type of atrophy is caused by damage to the nerves that supply the muscles, leading to muscle weakness and wasting. Conditions such as amyotrophic lateral sclerosis (ALS), spinal cord injuries, and peripheral neuropathies can cause neurogenic atrophy.

In both cases, the affected muscles may become weak, shrink in size, and lose their tone and mass. Treatment for muscular atrophy depends on the underlying cause and may include physical therapy, exercise, and medication to manage symptoms and improve muscle strength and function.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Dystrophin is a protein that provides structural stability to muscle fibers. It is an essential component of the dystrophin-glycoprotein complex, which helps maintain the integrity of the sarcolemma (the membrane surrounding muscle cells) during muscle contraction and relaxation. Dystrophin plays a crucial role in connecting the cytoskeleton of the muscle fiber to the extracellular matrix, allowing for force transmission and protecting the muscle cell from damage.

Mutations in the DMD gene, which encodes dystrophin, can lead to various forms of muscular dystrophy, including Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). In DMD, a severe form of the disease, genetic alterations typically result in little or no production of functional dystrophin, causing progressive muscle weakness, wasting, and degeneration. In BMD, a milder form of the disorder, partially functional dystrophin is produced, leading to less severe symptoms and later onset of the disease.

Connectin is also known as titin, which is a giant protein that plays a crucial role in the elasticity and stiffness of muscle fibers. It is the largest protein in humans, spanning half the length of a muscle cell's sarcomere, the basic unit of muscle contraction. Connectin/titin has several domains with different functions, including binding to other proteins, regulating muscle contraction, and signaling within the muscle cell. Mutations in the connectin/titin gene have been associated with various forms of muscular dystrophy and cardiomyopathy.

Myoclonic Epilepsy with Ragged Red Fibers (MERRF) is a rare mitochondrial disorder, which is a group of genetic disorders that affect the energy production within cells. It is characterized by multiple symptoms including myoclonus (jerky, involuntary muscle spasms), epilepsy (recurrent seizures), ataxia (lack of coordination and balance), dementia, and weakness. The name "MERRF" comes from the characteristic finding of "ragged red fibers" in muscle biopsies when viewed under a microscope using special stains. These fibers are abnormal muscle cells containing clusters of abnormal mitochondria. MERRF is caused by mutations in the mitochondrial DNA, most commonly the A8344G point mutation in the MT-TK gene. It is typically inherited from the mother and can affect multiple organs throughout the body.

Muscle cells, also known as muscle fibers, are specialized cells that have the ability to contract and generate force, allowing for movement of the body and various internal organ functions. There are three main types of muscle tissue: skeletal, cardiac, and smooth.

Skeletal muscle cells are voluntary striated muscles attached to bones, enabling body movements and posture. They are multinucleated, with numerous nuclei located at the periphery of the cell. These cells are often called muscle fibers and can be quite large, extending the entire length of the muscle.

Cardiac muscle cells form the contractile tissue of the heart. They are also striated but have a single nucleus per cell and are interconnected by specialized junctions called intercalated discs, which help coordinate contraction throughout the heart.

Smooth muscle cells are found in various internal organs such as the digestive, respiratory, and urinary tracts, blood vessels, and the reproductive system. They are involuntary, non-striated muscles that control the internal organ functions. Smooth muscle cells have a single nucleus per cell and can either be spindle-shaped or stellate (star-shaped).

In summary, muscle cells are specialized contractile cells responsible for movement and various internal organ functions in the human body. They can be categorized into three types: skeletal, cardiac, and smooth, based on their structure, location, and function.

Dynamin II is a protein that belongs to the dynamin family, which are large GTPases involved in various cellular processes such as membrane trafficking and cytokinesis. Dynamin II is widely expressed in different tissues and plays a crucial role in endocytosis, particularly in clathrin-mediated endocytosis.

In this process, dynamin II functions as a mechanoenzyme that constricts and ultimately severs the neck of invaginated vesicles from the plasma membrane, allowing for the internalization of extracellular cargo into the cell. Dynamin II is also involved in other cellular processes such as intracellular vesicle trafficking, organelle division, and actin dynamics regulation.

Mutations in the gene encoding dynamin II (DNM2) have been associated with several human genetic disorders, including centronuclear myopathy, Charcot-Marie-Tooth disease type 4B1, and dominant intermediate laminopathies. These mutations can lead to abnormal protein function or expression levels, resulting in disrupted cellular processes and causing muscle weakness, peripheral neuropathy, and other clinical manifestations.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

Electrodiagnosis, also known as electromyography (EMG), is a medical diagnostic procedure that evaluates the health and function of muscles and nerves. It measures the electrical activity of skeletal muscles at rest and during contraction, as well as the conduction of electrical signals along nerves.

The test involves inserting a thin needle electrode into the muscle to record its electrical activity. The physician will ask the patient to contract and relax the muscle while the electrical activity is recorded. The resulting data can help diagnose various neuromuscular disorders, such as nerve damage or muscle diseases, by identifying abnormalities in the electrical signals.

Electrodiagnosis can be used to diagnose conditions such as carpal tunnel syndrome, peripheral neuropathy, muscular dystrophy, and amyotrophic lateral sclerosis (ALS), among others. It is a valuable tool in the diagnosis and management of neuromuscular disorders, helping physicians to develop appropriate treatment plans for their patients.

Rhabdomyolysis is a medical condition characterized by the breakdown and degeneration of skeletal muscle fibers, leading to the release of their intracellular contents into the bloodstream. This can result in various complications, including electrolyte imbalances, kidney injury or failure, and potentially life-threatening conditions if not promptly diagnosed and treated.

The process of rhabdomyolysis typically involves three key components:

1. Muscle injury: Direct trauma, excessive exertion, prolonged immobilization, infections, metabolic disorders, toxins, or medications can cause muscle damage, leading to the release of intracellular components into the bloodstream.
2. Release of muscle contents: When muscle fibers break down, they release various substances, such as myoglobin, creatine kinase (CK), lactate dehydrogenase (LDH), aldolase, and potassium ions. Myoglobin is a protein that can cause kidney damage when present in high concentrations in the bloodstream, particularly when it is filtered through the kidneys and deposits in the renal tubules.
3. Systemic effects: The release of muscle contents into the bloodstream can lead to various systemic complications, such as electrolyte imbalances (particularly hyperkalemia), acidosis, hypocalcemia, and kidney injury or failure due to myoglobin-induced tubular damage.

Symptoms of rhabdomyolysis can vary widely depending on the severity and extent of muscle damage but may include muscle pain, weakness, swelling, stiffness, dark urine, and tea-colored or cola-colored urine due to myoglobinuria. In severe cases, patients may experience symptoms related to kidney failure, such as nausea, vomiting, fatigue, and decreased urine output.

Diagnosis of rhabdomyolysis typically involves measuring blood levels of muscle enzymes (such as CK and LDH) and evaluating renal function through blood tests and urinalysis. Treatment generally focuses on addressing the underlying cause of muscle damage, maintaining fluid balance, correcting electrolyte imbalances, and preventing or managing kidney injury.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Malignant hyperthermia (MH) is a rare, but potentially life-threatening genetic disorder that can occur in susceptible individuals as a reaction to certain anesthetic drugs or other triggers. The condition is characterized by a rapid and uncontrolled increase in body temperature (hyperthermia), muscle rigidity, and metabolic rate due to abnormal skeletal muscle calcium regulation.

MH can develop quickly during or after surgery, usually within the first hour of exposure to triggering anesthetics such as succinylcholine or volatile inhalational agents (e.g., halothane, sevoflurane, desflurane). The increased metabolic rate and muscle activity lead to excessive production of heat, carbon dioxide, lactic acid, and potassium, which can cause severe complications such as heart rhythm abnormalities, kidney failure, or multi-organ dysfunction if not promptly recognized and treated.

The primary treatment for MH involves discontinuing triggering anesthetics, providing supportive care (e.g., oxygen, fluid replacement), and administering medications to reduce body temperature, muscle rigidity, and metabolic rate. Dantrolene sodium is the specific antidote for MH, which works by inhibiting calcium release from the sarcoplasmic reticulum in skeletal muscle cells, thereby reducing muscle contractility and metabolism.

Individuals with a family history of MH or who have experienced an episode should undergo genetic testing and counseling to determine their susceptibility and take appropriate precautions when receiving anesthesia.

A sarcomere is the basic contractile unit in a muscle fiber, and it's responsible for generating the force necessary for muscle contraction. It is composed of several proteins, including actin and myosin, which slide past each other to shorten the sarcomere during contraction. The sarcomere extends from one Z-line to the next in a muscle fiber, and it is delimited by the Z-discs where actin filaments are anchored. Sarcomeres play a crucial role in the functioning of skeletal, cardiac, and smooth muscles.

The Ryanodine Receptor (RyR) is a calcium release channel located on the sarcoplasmic reticulum (SR), a type of endoplasmic reticulum found in muscle cells. It plays a crucial role in excitation-contraction coupling, which is the process by which electrical signals are converted into mechanical responses in muscle fibers.

In more detail, when an action potential reaches the muscle fiber's surface membrane, it triggers the opening of voltage-gated L-type calcium channels (Dihydropyridine Receptors or DHPRs) in the sarcolemma (the cell membrane of muscle fibers). This influx of calcium ions into the cytoplasm causes a conformational change in the RyR, leading to its own opening and the release of stored calcium from the SR into the cytoplasm. The increased cytoplasmic calcium concentration then initiates muscle contraction through interaction with contractile proteins like actin and myosin.

There are three isoforms of RyR: RyR1, RyR2, and RyR3. RyR1 is primarily found in skeletal muscle, while RyR2 is predominantly expressed in cardiac muscle. Both RyR1 and RyR2 are large homotetrameric proteins with a molecular weight of approximately 2.2 million Daltons. They contain multiple domains including an ion channel pore, regulatory domains, and a foot structure that interacts with DHPRs. RyR3 is more widely distributed, being found in various tissues such as the brain, smooth muscle, and some types of neurons.

Dysfunction of these channels has been implicated in several diseases including malignant hyperthermia, central core disease, catecholaminergic polymorphic ventricular tachycardia (CPVT), and certain forms of heart failure.

Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle weakness and degeneration. It is caused by the absence of dystrophin, a protein that helps keep muscle cells intact. Without dystrophin, the muscle cells break down and are replaced with scar tissue, leading to loss of muscle function over time.

DMD primarily affects boys, as it is inherited in an X-linked recessive pattern, meaning that females who carry one affected X chromosome typically do not show symptoms but can pass the gene on to their offspring. Symptoms usually begin in early childhood and include difficulty with motor skills such as walking, running, and climbing stairs. Over time, the muscle weakness progresses and can lead to loss of ambulation, respiratory and cardiac complications, and ultimately, premature death.

Currently, there is no cure for DMD, but various treatments such as corticosteroids, physical therapy, and assisted ventilation can help manage symptoms and improve quality of life. Gene therapy approaches are also being investigated as potential treatments for this disorder.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Autoantibodies are defined as antibodies that are produced by the immune system and target the body's own cells, tissues, or organs. These antibodies mistakenly identify certain proteins or molecules in the body as foreign invaders and attack them, leading to an autoimmune response. Autoantibodies can be found in various autoimmune diseases such as rheumatoid arthritis, lupus, and thyroiditis. The presence of autoantibodies can also be used as a diagnostic marker for certain conditions.

Mitochondrial diseases are a group of disorders caused by dysfunctions in the mitochondria, which are the energy-producing structures in cells. These diseases can affect people of any age and can manifest in various ways, depending on which organs or systems are affected. Common symptoms include muscle weakness, neurological problems, cardiac disease, diabetes, and vision/hearing loss. Mitochondrial diseases can be inherited from either the mother's or father's side, or they can occur spontaneously due to genetic mutations. They can range from mild to severe and can even be life-threatening in some cases.

Inborn errors of metabolism (IEM) refer to a group of genetic disorders caused by defects in enzymes or transporters that play a role in the body's metabolic processes. These disorders result in the accumulation or deficiency of specific chemicals within the body, which can lead to various clinical manifestations, such as developmental delay, intellectual disability, seizures, organ damage, and in some cases, death.

Examples of IEM include phenylketonuria (PKU), maple syrup urine disease (MSUD), galactosemia, and glycogen storage diseases, among many others. These disorders are typically inherited in an autosomal recessive manner, meaning that an affected individual has two copies of the mutated gene, one from each parent.

Early diagnosis and management of IEM are crucial to prevent or minimize complications and improve outcomes. Treatment options may include dietary modifications, supplementation with missing enzymes or cofactors, medication, and in some cases, stem cell transplantation or gene therapy.

Electromyography (EMG) is a medical diagnostic procedure that measures the electrical activity of skeletal muscles during contraction and at rest. It involves inserting a thin needle electrode into the muscle to record the electrical signals generated by the muscle fibers. These signals are then displayed on an oscilloscope and may be heard through a speaker.

EMG can help diagnose various neuromuscular disorders, such as muscle weakness, numbness, or pain, and can distinguish between muscle and nerve disorders. It is often used in conjunction with other diagnostic tests, such as nerve conduction studies, to provide a comprehensive evaluation of the nervous system.

EMG is typically performed by a neurologist or a physiatrist, and the procedure may cause some discomfort or pain, although this is usually minimal. The results of an EMG can help guide treatment decisions and monitor the progression of neuromuscular conditions over time.

Regeneration in a medical context refers to the process of renewal, restoration, and growth that replaces damaged or missing cells, tissues, organs, or even whole limbs in some organisms. This complex biological process involves various cellular and molecular mechanisms, such as cell proliferation, differentiation, and migration, which work together to restore the structural and functional integrity of the affected area.

In human medicine, regeneration has attracted significant interest due to its potential therapeutic applications in treating various conditions, including degenerative diseases, trauma, and congenital disorders. Researchers are actively studying the underlying mechanisms of regeneration in various model organisms to develop novel strategies for promoting tissue repair and regeneration in humans.

Examples of regeneration in human medicine include liver regeneration after partial hepatectomy, where the remaining liver lobes can grow back to their original size within weeks, and skin wound healing, where keratinocytes migrate and proliferate to close the wound and restore the epidermal layer. However, the regenerative capacity of humans is limited compared to some other organisms, such as planarians and axolotls, which can regenerate entire body parts or even their central nervous system.

Muscle development, also known as muscle hypertrophy, refers to the increase in size and mass of the muscles through a process called myofiber growth. This is primarily achieved through resistance or strength training exercises that cause micro-tears in the muscle fibers, leading to an inflammatory response and the release of hormones that promote muscle growth. As the muscles repair themselves, they become larger and stronger than before. Proper nutrition, including adequate protein intake, and rest are also essential components of muscle development.

It is important to note that while muscle development can lead to an increase in strength and muscular endurance, it does not necessarily result in improved athletic performance or overall fitness. A well-rounded exercise program that includes cardiovascular activity, flexibility training, and resistance exercises is recommended for optimal health and fitness outcomes.

Cardiomyopathies are a group of diseases that affect the heart muscle, leading to mechanical and/or electrical dysfunction. The American Heart Association (AHA) defines cardiomyopathies as "a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not always) exhibit inappropriate ventricular hypertrophy or dilatation and frequently lead to heart failure."

There are several types of cardiomyopathies, including:

1. Dilated cardiomyopathy (DCM): This is the most common type of cardiomyopathy, characterized by an enlarged left ventricle and impaired systolic function, leading to heart failure.
2. Hypertrophic cardiomyopathy (HCM): In this type, there is abnormal thickening of the heart muscle, particularly in the septum between the two ventricles, which can obstruct blood flow and increase the risk of arrhythmias.
3. Restrictive cardiomyopathy (RCM): This is a rare form of cardiomyopathy characterized by stiffness of the heart muscle, impaired relaxation, and diastolic dysfunction, leading to reduced filling of the ventricles and heart failure.
4. Arrhythmogenic right ventricular cardiomyopathy (ARVC): In this type, there is replacement of the normal heart muscle with fatty or fibrous tissue, primarily affecting the right ventricle, which can lead to arrhythmias and sudden cardiac death.
5. Unclassified cardiomyopathies: These are conditions that do not fit into any of the above categories but still significantly affect the heart muscle and function.

Cardiomyopathies can be caused by genetic factors, acquired conditions (e.g., infections, toxins, or autoimmune disorders), or a combination of both. The diagnosis typically involves a comprehensive evaluation, including medical history, physical examination, electrocardiogram (ECG), echocardiography, cardiac magnetic resonance imaging (MRI), and sometimes genetic testing. Treatment depends on the type and severity of the condition but may include medications, lifestyle modifications, implantable devices, or even heart transplantation in severe cases.

Immunohistochemistry (IHC) is a technique used in pathology and laboratory medicine to identify specific proteins or antigens in tissue sections. It combines the principles of immunology and histology to detect the presence and location of these target molecules within cells and tissues. This technique utilizes antibodies that are specific to the protein or antigen of interest, which are then tagged with a detection system such as a chromogen or fluorophore. The stained tissue sections can be examined under a microscope, allowing for the visualization and analysis of the distribution and expression patterns of the target molecule in the context of the tissue architecture. Immunohistochemistry is widely used in diagnostic pathology to help identify various diseases, including cancer, infectious diseases, and immune-mediated disorders.

Intermediate filaments (IFs) are a type of cytoskeletal filament found in the cytoplasm of eukaryotic cells, including animal cells. They are called "intermediate" because they are smaller in diameter than microfilaments and larger than microtubules, two other types of cytoskeletal structures.

Intermediate filaments are composed of fibrous proteins that form long, unbranched, and flexible filaments. These filaments provide structural support to the cell and help maintain its shape. They also play a role in cell-to-cell adhesion, intracellular transport, and protection against mechanical stress.

Intermediate filaments are classified into six types based on their protein composition: Type I (acidic keratins), Type II (neutral/basic keratins), Type III (vimentin, desmin, peripherin), Type IV (neurofilaments), Type V (lamins), and Type VI (nestin). Each type of intermediate filament has a specific function and is expressed in different cell types. For example, Type I and II keratins are found in epithelial cells, while vimentin is expressed in mesenchymal cells.

Overall, intermediate filaments play an essential role in maintaining the structural integrity of cells and tissues, and their dysfunction has been implicated in various human diseases, including cancer, neurodegenerative disorders, and genetic disorders.

Mitochondrial DNA (mtDNA) is the genetic material present in the mitochondria, which are specialized structures within cells that generate energy. Unlike nuclear DNA, which is present in the cell nucleus and inherited from both parents, mtDNA is inherited solely from the mother.

MtDNA is a circular molecule that contains 37 genes, including 13 genes that encode for proteins involved in oxidative phosphorylation, a process that generates energy in the form of ATP. The remaining genes encode for rRNAs and tRNAs, which are necessary for protein synthesis within the mitochondria.

Mutations in mtDNA can lead to a variety of genetic disorders, including mitochondrial diseases, which can affect any organ system in the body. These mutations can also be used in forensic science to identify individuals and establish biological relationships.

Sarcolemma is the medical term for the cell membrane that surrounds a muscle fiber or a skeletal muscle cell. It is responsible for providing protection and structure to the muscle fiber, as well as regulating the movement of ions and other molecules in and out of the cell. The sarcolemma plays a crucial role in the excitation-contraction coupling process that allows muscles to contract and relax.

The sarcolemma is composed of two main layers: the outer plasma membrane, which is similar to the cell membranes of other cells, and the inner basal lamina, which provides structural support and helps to anchor the muscle fiber to surrounding tissues. The sarcolemma also contains various ion channels, receptors, and transporters that are involved in regulating muscle function and communication with other cells.

Damage to the sarcolemma can lead to a variety of muscle disorders, including muscular dystrophy and myasthenia gravis.

'Mice, Inbred mdx' is a genetic strain of laboratory mice that are widely used as a model to study Duchenne muscular dystrophy (DMD), a severe and progressive muscle-wasting disorder in humans. The 'mdx' designation refers to the specific genetic mutation present in these mice, which is a point mutation in the gene encoding for dystrophin, a crucial protein involved in maintaining the structural integrity of muscle fibers.

Inbred mdx mice carry a spontaneous mutation in exon 23 of the dystrophin gene, resulting in the production of a truncated and nonfunctional form of the protein. This leads to a phenotype that closely resembles DMD in humans, including muscle weakness, degeneration, and fibrosis. The inbred nature of these mice ensures consistent genetic backgrounds and disease manifestations, making them valuable tools for studying the pathophysiology of DMD and testing potential therapies.

It is important to note that while the inbred mdx mouse model has been instrumental in advancing our understanding of DMD, it does not fully recapitulate all aspects of the human disease. Therefore, findings from these mice should be carefully interpreted and validated in more complex models or human studies before translating them into clinical applications.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Myosin Heavy Chains are the large, essential components of myosin molecules, which are responsible for the molecular motility in muscle cells. These heavy chains have a molecular weight of approximately 200 kDa and form the motor domain of myosin, which binds to actin filaments and hydrolyzes ATP to generate force and movement during muscle contraction. There are several different types of myosin heavy chains, each with specific roles in various tissues and cellular functions. In skeletal and cardiac muscles, for example, myosin heavy chains have distinct isoforms that contribute to the contractile properties of these tissues.

Histocompatibility antigens, class I are proteins found on the surface of most cells in the body. They play a critical role in the immune system's ability to differentiate between "self" and "non-self." These antigens are composed of three polypeptides - two heavy chains and one light chain - and are encoded by genes in the major histocompatibility complex (MHC) on chromosome 6 in humans.

Class I MHC molecules present peptide fragments from inside the cell to CD8+ T cells, also known as cytotoxic T cells. This presentation allows the immune system to detect and destroy cells that have been infected by viruses or other intracellular pathogens, or that have become cancerous.

There are three main types of class I MHC molecules in humans: HLA-A, HLA-B, and HLA-C. The term "HLA" stands for human leukocyte antigen, which reflects the original identification of these proteins on white blood cells (leukocytes). The genes encoding these molecules are highly polymorphic, meaning there are many different variants in the population, and matching HLA types is essential for successful organ transplantation to minimize the risk of rejection.

Vacuoles are membrane-bound organelles found in the cells of most eukaryotic organisms. They are essentially fluid-filled sacs that store various substances, such as enzymes, waste products, and nutrients. In plants, vacuoles often contain water, ions, and various organic compounds, while in fungi, they may store lipids or pigments. Vacuoles can also play a role in maintaining the turgor pressure of cells, which is critical for cell shape and function.

In animal cells, vacuoles are typically smaller and less numerous than in plant cells. Animal cells have lysosomes, which are membrane-bound organelles that contain digestive enzymes and break down waste materials, cellular debris, and foreign substances. Lysosomes can be considered a type of vacuole, but they are more specialized in their function.

Overall, vacuoles are essential for maintaining the health and functioning of cells by providing a means to store and dispose of various substances.

Tropomyosin is a protein that plays a crucial role in muscle contraction. It is a long, thin filamentous protein that runs along the length of actin filaments in muscle cells, forming part of the troponin-tropomyosin complex. This complex regulates the interaction between actin and myosin, which are the other two key proteins involved in muscle contraction.

In a relaxed muscle, tropomyosin blocks the myosin-binding sites on actin, preventing muscle contraction from occurring. When a signal is received to contract, calcium ions are released into the muscle cell, which binds to troponin and causes a conformational change that moves tropomyosin out of the way, exposing the myosin-binding sites on actin. This allows myosin to bind to actin and generate force, leading to muscle contraction.

Tropomyosin is composed of two alpha-helical chains that wind around each other in a coiled-coil structure. There are several isoforms of tropomyosin found in different types of muscle cells, including skeletal, cardiac, and smooth muscle. Mutations in the genes encoding tropomyosin have been associated with various inherited muscle disorders, such as hypertrophic cardiomyopathy and distal arthrogryposis.

Transmission electron microscopy (TEM) is a type of microscopy in which an electron beam is transmitted through a ultra-thin specimen, interacting with it as it passes through. An image is formed from the interaction of the electrons with the specimen; the image is then magnified and visualized on a fluorescent screen or recorded on an electronic detector (or photographic film in older models).

TEM can provide high-resolution, high-magnification images that can reveal the internal structure of specimens including cells, viruses, and even molecules. It is widely used in biological and materials science research to investigate the ultrastructure of cells, tissues and materials. In medicine, TEM is used for diagnostic purposes in fields such as virology and bacteriology.

It's important to note that preparing a sample for TEM is a complex process, requiring specialized techniques to create thin (50-100 nm) specimens. These include cutting ultrathin sections of embedded samples using an ultramicrotome, staining with heavy metal salts, and positive staining or negative staining methods.

Muscle contraction is the physiological process in which muscle fibers shorten and generate force, leading to movement or stability of a body part. This process involves the sliding filament theory where thick and thin filaments within the sarcomeres (the functional units of muscles) slide past each other, facilitated by the interaction between myosin heads and actin filaments. The energy required for this action is provided by the hydrolysis of adenosine triphosphate (ATP). Muscle contractions can be voluntary or involuntary, and they play a crucial role in various bodily functions such as locomotion, circulation, respiration, and posture maintenance.

Autoimmune diseases are a group of disorders in which the immune system, which normally protects the body from foreign invaders like bacteria and viruses, mistakenly attacks the body's own cells and tissues. This results in inflammation and damage to various organs and tissues in the body.

In autoimmune diseases, the body produces autoantibodies that target its own proteins or cell receptors, leading to their destruction or malfunction. The exact cause of autoimmune diseases is not fully understood, but it is believed that a combination of genetic and environmental factors contribute to their development.

There are over 80 different types of autoimmune diseases, including rheumatoid arthritis, lupus, multiple sclerosis, type 1 diabetes, Hashimoto's thyroiditis, Graves' disease, psoriasis, and inflammatory bowel disease. Symptoms can vary widely depending on the specific autoimmune disease and the organs or tissues affected. Treatment typically involves managing symptoms and suppressing the immune system to prevent further damage.

Mitochondria are specialized structures located inside cells that convert the energy from food into ATP (adenosine triphosphate), which is the primary form of energy used by cells. They are often referred to as the "powerhouses" of the cell because they generate most of the cell's supply of chemical energy. Mitochondria are also involved in various other cellular processes, such as signaling, differentiation, and apoptosis (programmed cell death).

Mitochondria have their own DNA, known as mitochondrial DNA (mtDNA), which is inherited maternally. This means that mtDNA is passed down from the mother to her offspring through the egg cells. Mitochondrial dysfunction has been linked to a variety of diseases and conditions, including neurodegenerative disorders, diabetes, and aging.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

A zebrafish is a freshwater fish species belonging to the family Cyprinidae and the genus Danio. Its name is derived from its distinctive striped pattern that resembles a zebra's. Zebrafish are often used as model organisms in scientific research, particularly in developmental biology, genetics, and toxicology studies. They have a high fecundity rate, transparent embryos, and a rapid development process, making them an ideal choice for researchers. However, it is important to note that providing a medical definition for zebrafish may not be entirely accurate or relevant since they are primarily used in biological research rather than clinical medicine.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Autophagy is a fundamental cellular process that involves the degradation and recycling of damaged or unnecessary cellular components, such as proteins and organelles. The term "autophagy" comes from the Greek words "auto" meaning self and "phagy" meaning eating. It is a natural process that occurs in all types of cells and helps maintain cellular homeostasis by breaking down and recycling these components.

There are several different types of autophagy, including macroautophagy, microautophagy, and chaperone-mediated autophagy (CMA). Macroautophagy is the most well-known form and involves the formation of a double-membraned vesicle called an autophagosome, which engulfs the cellular component to be degraded. The autophagosome then fuses with a lysosome, an organelle containing enzymes that break down and recycle the contents of the autophagosome.

Autophagy plays important roles in various cellular processes, including adaptation to starvation, removal of damaged organelles, clearance of protein aggregates, and regulation of programmed cell death (apoptosis). Dysregulation of autophagy has been implicated in a number of diseases, including cancer, neurodegenerative disorders, and infectious diseases.

Electron Transport Complex IV is also known as Cytochrome c oxidase. It is the last complex in the electron transport chain, located in the inner mitochondrial membrane of eukaryotic cells and the plasma membrane of prokaryotic cells. This complex contains 13 subunits, two heme groups (a and a3), and three copper centers (A, B, and C).

In the electron transport chain, Complex IV receives electrons from cytochrome c and transfers them to molecular oxygen, reducing it to water. This process is accompanied by the pumping of protons across the membrane, contributing to the generation of a proton gradient that drives ATP synthesis via ATP synthase (Complex V). The overall reaction catalyzed by Complex IV can be summarized as follows:

4e- + 4H+ + O2 → 2H2O

Defects in Cytochrome c oxidase can lead to various diseases, including mitochondrial encephalomyopathies and neurodegenerative disorders.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Electron microscopy (EM) is a type of microscopy that uses a beam of electrons to create an image of the sample being examined, resulting in much higher magnification and resolution than light microscopy. There are several types of electron microscopy, including transmission electron microscopy (TEM), scanning electron microscopy (SEM), and reflection electron microscopy (REM).

In TEM, a beam of electrons is transmitted through a thin slice of the sample, and the electrons that pass through the sample are focused to form an image. This technique can provide detailed information about the internal structure of cells, viruses, and other biological specimens, as well as the composition and structure of materials at the atomic level.

In SEM, a beam of electrons is scanned across the surface of the sample, and the electrons that are scattered back from the surface are detected to create an image. This technique can provide information about the topography and composition of surfaces, as well as the structure of materials at the microscopic level.

REM is a variation of SEM in which the beam of electrons is reflected off the surface of the sample, rather than scattered back from it. This technique can provide information about the surface chemistry and composition of materials.

Electron microscopy has a wide range of applications in biology, medicine, and materials science, including the study of cellular structure and function, disease diagnosis, and the development of new materials and technologies.

A case-control study is an observational research design used to identify risk factors or causes of a disease or health outcome. In this type of study, individuals with the disease or condition (cases) are compared with similar individuals who do not have the disease or condition (controls). The exposure history or other characteristics of interest are then compared between the two groups to determine if there is an association between the exposure and the disease.

Case-control studies are often used when it is not feasible or ethical to conduct a randomized controlled trial, as they can provide valuable insights into potential causes of diseases or health outcomes in a relatively short period of time and at a lower cost than other study designs. However, because case-control studies rely on retrospective data collection, they are subject to biases such as recall bias and selection bias, which can affect the validity of the results. Therefore, it is important to carefully design and conduct case-control studies to minimize these potential sources of bias.

Immunosuppressive agents are medications that decrease the activity of the immune system. They are often used to prevent the rejection of transplanted organs and to treat autoimmune diseases, where the immune system mistakenly attacks the body's own tissues. These drugs work by interfering with the immune system's normal responses, which helps to reduce inflammation and damage to tissues. However, because they suppress the immune system, people who take immunosuppressive agents are at increased risk for infections and other complications. Examples of immunosuppressive agents include corticosteroids, azathioprine, cyclophosphamide, mycophenolate mofetil, tacrolimus, and sirolimus.

The myocardium is the middle layer of the heart wall, composed of specialized cardiac muscle cells that are responsible for pumping blood throughout the body. It forms the thickest part of the heart wall and is divided into two sections: the left ventricle, which pumps oxygenated blood to the rest of the body, and the right ventricle, which pumps deoxygenated blood to the lungs.

The myocardium contains several types of cells, including cardiac muscle fibers, connective tissue, nerves, and blood vessels. The muscle fibers are arranged in a highly organized pattern that allows them to contract in a coordinated manner, generating the force necessary to pump blood through the heart and circulatory system.

Damage to the myocardium can occur due to various factors such as ischemia (reduced blood flow), infection, inflammation, or genetic disorders. This damage can lead to several cardiac conditions, including heart failure, arrhythmias, and cardiomyopathy.

A Severity of Illness Index is a measurement tool used in healthcare to assess the severity of a patient's condition and the risk of mortality or other adverse outcomes. These indices typically take into account various physiological and clinical variables, such as vital signs, laboratory values, and co-morbidities, to generate a score that reflects the patient's overall illness severity.

Examples of Severity of Illness Indices include the Acute Physiology and Chronic Health Evaluation (APACHE) system, the Simplified Acute Physiology Score (SAPS), and the Mortality Probability Model (MPM). These indices are often used in critical care settings to guide clinical decision-making, inform prognosis, and compare outcomes across different patient populations.

It is important to note that while these indices can provide valuable information about a patient's condition, they should not be used as the sole basis for clinical decision-making. Rather, they should be considered in conjunction with other factors, such as the patient's overall clinical presentation, treatment preferences, and goals of care.

"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.

Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.

It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

Actin is a type of protein that forms part of the contractile apparatus in muscle cells, and is also found in various other cell types. It is a globular protein that polymerizes to form long filaments, which are important for many cellular processes such as cell division, cell motility, and the maintenance of cell shape. In muscle cells, actin filaments interact with another type of protein called myosin to enable muscle contraction. Actins can be further divided into different subtypes, including alpha-actin, beta-actin, and gamma-actin, which have distinct functions and expression patterns in the body.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Retrospective studies, also known as retrospective research or looking back studies, are a type of observational study that examines data from the past to draw conclusions about possible causal relationships between risk factors and outcomes. In these studies, researchers analyze existing records, medical charts, or previously collected data to test a hypothesis or answer a specific research question.

Retrospective studies can be useful for generating hypotheses and identifying trends, but they have limitations compared to prospective studies, which follow participants forward in time from exposure to outcome. Retrospective studies are subject to biases such as recall bias, selection bias, and information bias, which can affect the validity of the results. Therefore, retrospective studies should be interpreted with caution and used primarily to generate hypotheses for further testing in prospective studies.

A cell line is a culture of cells that are grown in a laboratory for use in research. These cells are usually taken from a single cell or group of cells, and they are able to divide and grow continuously in the lab. Cell lines can come from many different sources, including animals, plants, and humans. They are often used in scientific research to study cellular processes, disease mechanisms, and to test new drugs or treatments. Some common types of human cell lines include HeLa cells (which come from a cancer patient named Henrietta Lacks), HEK293 cells (which come from embryonic kidney cells), and HUVEC cells (which come from umbilical vein endothelial cells). It is important to note that cell lines are not the same as primary cells, which are cells that are taken directly from a living organism and have not been grown in the lab.

CD (cluster of differentiation) antigens are cell-surface proteins that are expressed on leukocytes (white blood cells) and can be used to identify and distinguish different subsets of these cells. They are important markers in the field of immunology and hematology, and are commonly used to diagnose and monitor various diseases, including cancer, autoimmune disorders, and infectious diseases.

CD antigens are designated by numbers, such as CD4, CD8, CD19, etc., which refer to specific proteins found on the surface of different types of leukocytes. For example, CD4 is a protein found on the surface of helper T cells, while CD8 is found on cytotoxic T cells.

CD antigens can be used as targets for immunotherapy, such as monoclonal antibody therapy, in which antibodies are designed to bind to specific CD antigens and trigger an immune response against cancer cells or infected cells. They can also be used as markers to monitor the effectiveness of treatments and to detect minimal residual disease (MRD) after treatment.

It's important to note that not all CD antigens are exclusive to leukocytes, some can be found on other cell types as well, and their expression can vary depending on the activation state or differentiation stage of the cells.

A biological marker, often referred to as a biomarker, is a measurable indicator that reflects the presence or severity of a disease state, or a response to a therapeutic intervention. Biomarkers can be found in various materials such as blood, tissues, or bodily fluids, and they can take many forms, including molecular, histologic, radiographic, or physiological measurements.

In the context of medical research and clinical practice, biomarkers are used for a variety of purposes, such as:

1. Diagnosis: Biomarkers can help diagnose a disease by indicating the presence or absence of a particular condition. For example, prostate-specific antigen (PSA) is a biomarker used to detect prostate cancer.
2. Monitoring: Biomarkers can be used to monitor the progression or regression of a disease over time. For instance, hemoglobin A1c (HbA1c) levels are monitored in diabetes patients to assess long-term blood glucose control.
3. Predicting: Biomarkers can help predict the likelihood of developing a particular disease or the risk of a negative outcome. For example, the presence of certain genetic mutations can indicate an increased risk for breast cancer.
4. Response to treatment: Biomarkers can be used to evaluate the effectiveness of a specific treatment by measuring changes in the biomarker levels before and after the intervention. This is particularly useful in personalized medicine, where treatments are tailored to individual patients based on their unique biomarker profiles.

It's important to note that for a biomarker to be considered clinically valid and useful, it must undergo rigorous validation through well-designed studies, including demonstrating sensitivity, specificity, reproducibility, and clinical relevance.

Up-regulation is a term used in molecular biology and medicine to describe an increase in the expression or activity of a gene, protein, or receptor in response to a stimulus. This can occur through various mechanisms such as increased transcription, translation, or reduced degradation of the molecule. Up-regulation can have important functional consequences, for example, enhancing the sensitivity or response of a cell to a hormone, neurotransmitter, or drug. It is a normal physiological process that can also be induced by disease or pharmacological interventions.

'Gene expression regulation' refers to the processes that control whether, when, and where a particular gene is expressed, meaning the production of a specific protein or functional RNA encoded by that gene. This complex mechanism can be influenced by various factors such as transcription factors, chromatin remodeling, DNA methylation, non-coding RNAs, and post-transcriptional modifications, among others. Proper regulation of gene expression is crucial for normal cellular function, development, and maintaining homeostasis in living organisms. Dysregulation of gene expression can lead to various diseases, including cancer and genetic disorders.

Gene expression is the process by which the information encoded in a gene is used to synthesize a functional gene product, such as a protein or RNA molecule. This process involves several steps: transcription, RNA processing, and translation. During transcription, the genetic information in DNA is copied into a complementary RNA molecule, known as messenger RNA (mRNA). The mRNA then undergoes RNA processing, which includes adding a cap and tail to the mRNA and splicing out non-coding regions called introns. The resulting mature mRNA is then translated into a protein on ribosomes in the cytoplasm through the process of translation.

The regulation of gene expression is a complex and highly controlled process that allows cells to respond to changes in their environment, such as growth factors, hormones, and stress signals. This regulation can occur at various stages of gene expression, including transcriptional activation or repression, RNA processing, mRNA stability, and translation. Dysregulation of gene expression has been implicated in many diseases, including cancer, genetic disorders, and neurological conditions.

Transgenic mice are genetically modified rodents that have incorporated foreign DNA (exogenous DNA) into their own genome. This is typically done through the use of recombinant DNA technology, where a specific gene or genetic sequence of interest is isolated and then introduced into the mouse embryo. The resulting transgenic mice can then express the protein encoded by the foreign gene, allowing researchers to study its function in a living organism.

The process of creating transgenic mice usually involves microinjecting the exogenous DNA into the pronucleus of a fertilized egg, which is then implanted into a surrogate mother. The offspring that result from this procedure are screened for the presence of the foreign DNA, and those that carry the desired genetic modification are used to establish a transgenic mouse line.

Transgenic mice have been widely used in biomedical research to model human diseases, study gene function, and test new therapies. They provide a valuable tool for understanding complex biological processes and developing new treatments for a variety of medical conditions.

Interferon-gamma (IFN-γ) is a soluble cytokine that is primarily produced by the activation of natural killer (NK) cells and T lymphocytes, especially CD4+ Th1 cells and CD8+ cytotoxic T cells. It plays a crucial role in the regulation of the immune response against viral and intracellular bacterial infections, as well as tumor cells. IFN-γ has several functions, including activating macrophages to enhance their microbicidal activity, increasing the presentation of major histocompatibility complex (MHC) class I and II molecules on antigen-presenting cells, stimulating the proliferation and differentiation of T cells and NK cells, and inducing the production of other cytokines and chemokines. Additionally, IFN-γ has direct antiproliferative effects on certain types of tumor cells and can enhance the cytotoxic activity of immune cells against infected or malignant cells.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

Protein binding, in the context of medical and biological sciences, refers to the interaction between a protein and another molecule (known as the ligand) that results in a stable complex. This process is often reversible and can be influenced by various factors such as pH, temperature, and concentration of the involved molecules.

In clinical chemistry, protein binding is particularly important when it comes to drugs, as many of them bind to proteins (especially albumin) in the bloodstream. The degree of protein binding can affect a drug's distribution, metabolism, and excretion, which in turn influence its therapeutic effectiveness and potential side effects.

Protein-bound drugs may be less available for interaction with their target tissues, as only the unbound or "free" fraction of the drug is active. Therefore, understanding protein binding can help optimize dosing regimens and minimize adverse reactions.

C57BL/6 (C57 Black 6) is an inbred strain of laboratory mouse that is widely used in biomedical research. The term "inbred" refers to a strain of animals where matings have been carried out between siblings or other closely related individuals for many generations, resulting in a population that is highly homozygous at most genetic loci.

The C57BL/6 strain was established in 1920 by crossing a female mouse from the dilute brown (DBA) strain with a male mouse from the black strain. The resulting offspring were then interbred for many generations to create the inbred C57BL/6 strain.

C57BL/6 mice are known for their robust health, longevity, and ease of handling, making them a popular choice for researchers. They have been used in a wide range of biomedical research areas, including studies of cancer, immunology, neuroscience, cardiovascular disease, and metabolism.

One of the most notable features of the C57BL/6 strain is its sensitivity to certain genetic modifications, such as the introduction of mutations that lead to obesity or impaired glucose tolerance. This has made it a valuable tool for studying the genetic basis of complex diseases and traits.

Overall, the C57BL/6 inbred mouse strain is an important model organism in biomedical research, providing a valuable resource for understanding the genetic and molecular mechanisms underlying human health and disease.

Cell differentiation is the process by which a less specialized cell, or stem cell, becomes a more specialized cell type with specific functions and structures. This process involves changes in gene expression, which are regulated by various intracellular signaling pathways and transcription factors. Differentiation results in the development of distinct cell types that make up tissues and organs in multicellular organisms. It is a crucial aspect of embryonic development, tissue repair, and maintenance of homeostasis in the body.

Calcium is an essential mineral that is vital for various physiological processes in the human body. The medical definition of calcium is as follows:

Calcium (Ca2+) is a crucial cation and the most abundant mineral in the human body, with approximately 99% of it found in bones and teeth. It plays a vital role in maintaining structural integrity, nerve impulse transmission, muscle contraction, hormonal secretion, blood coagulation, and enzyme activation.

Calcium homeostasis is tightly regulated through the interplay of several hormones, including parathyroid hormone (PTH), calcitonin, and vitamin D. Dietary calcium intake, absorption, and excretion are also critical factors in maintaining optimal calcium levels in the body.

Hypocalcemia refers to low serum calcium levels, while hypercalcemia indicates high serum calcium levels. Both conditions can have detrimental effects on various organ systems and require medical intervention to correct.

This creates structural problems throughout the skeletal muscle and in the Z line of the sarcomere, creating the weakness in ... "congenital myopathy" can vary. One source includes nemaline myopathy, myotubular myopathy, central core myopathy, congenital ... Congenital myopathies with inclusion bodies and protein accumulation is a broad category, and some congenital myopathies that ... Since smaller type 1 fibers is not associated with nemaline myopathy, the most common type of congenital myopathy, it has not ...
Mutations in GFER has been shown to result in Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and ... The human gene is both the structural and functional homolog of the yeast scERV1 gene. This protein interacts with Mia40 during ... congenital cataract, sensorineural hearing loss, and developmental delay. GFER has been shown to interact with COP9 ... developmental delay (MPMCHD). MPMCHD is a disease characterized by progressive myopathy and partial combined respiratory-chain ...
His work has focused in particular on the clinical and morphological analysis of congenital myopathies defined by structural ... severe autosomal recessive myopathies in children with adhaline deficiency (gamma - sarcoglycan), congenital muscular ... advances in Duchenne myopathy. In the field of disability, it was responsible for a Report on the Comparative and Prospective ... Congenital muscular dystrophy with merosin deficiency », C-R Acad Sc, Paris, 1994, 317, p. 351-357 Ben Hamida M, Attia N, ...
A mutation in this gene has been shown to cause a unique congenital myopathy. This mutation is caused by alternative splicing ... "Phyre2". Structural Bioinformatics Group.[permanent dead link] "ExPASy: SIB Bioinformatics Resource Portal - Home". ExPasy. ... A group of researchers from the University of Michigan analyzed a family with a dominantly inherited congenital myopathy. After ... There are several isoforms, including one indicated with a unique congenital myopathy. Several expression profiles show it has ...
... myopathies, structural, congenital MeSH C10.668.491.550.290 - myopathies, nemaline MeSH C10.668.491.550.300 - myopathy, central ... congenital MeSH C10.228.228.210 - central nervous system viral diseases MeSH C10.228.228.210.150 - encephalitis MeSH C10.228. ... congenital MeSH C10.668.829.725 - peripheral nervous system neoplasms MeSH C10.668.829.725.500 - nerve sheath neoplasms MeSH ... distal myopathies MeSH C10.668.491.175.500.149 - muscular dystrophies, limb-girdle MeSH C10.668.491.175.500.300 - muscular ...
... including Ullrich congenital muscular dystrophy and Bethlem myopathy. SEPN1-related myopathy and arthrogryposis multiplex ... Another possibility is that in all subtypes, there is a loss of nuclear structural integrity. A positive genetic test in a ... Other diseases that have early or congenital contractures are diseases involving collagen mutations, ... congenita also cause congenital contractures. Weakness initially affects the humeral and peroneal muscles, progressing to ...
The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. Alternatively spliced ... Nature Structural & Molecular Biology. 25 (3): 217-224. doi:10.1038/s41594-018-0031-y. PMC 5840018. PMID 29459785. Dong YY, ... "DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies". Neurology. 82 (20): 1822-1830. doi:10.1212/WNL. ... Newell JW, Seo NS, Enns GM, McCraken M, Mantovani JF, Freeze HH (July 2003). "Congenital disorder of glycosylation Ic in ...
The disease is both a glycogenosis and a congenital disorder of glycosylation. It is also a metabolic myopathy and an inborn ... Later structural studies confirmed that the single site in the enzyme that becomes phosphorylated and dephosphorylated is the ... "Congenital Disorder of Glycosylation, Type It; CDG1T". Online Mendelian Inheritance in Man. 2012-07-11. Preisler N, Cohen J, ... Mineo I, Tarui S (1995). "Myogenic hyperuricemia: what can we learn from metabolic myopathies?". Muscle & Nerve. Supplement. 3 ...
... and myopathy. An autosomal dominant mutation in ACTG1 in the DFNA20/26 locus at 17q25-qter was identified in patients with ... structural basis for the switch from inhibition to promotion of actin assembly". Cell. 117 (5): 611-23. doi:10.1016/S0092-8674( ... which is a developmental disorder characterized by congenital ptosis, excessively-arched eyebrows, hypertelorism, ocular ... "Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy". ...
"Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene". Archives of Neurology. 69 (5): 657-61. ... "A new congenital muscular dystrophy with mitochondrial structural abnormalities". Muscle & Nerve. 21 (1): 40-7. doi:10.1002/( ... CHKB mutations have been majorly associated with Megaconial Congenital Muscular Dystrophy (MDCMC). Megaconial Congenital ... "Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene". Brain & Development. 38 (1): 167 ...
Some congenital myopathies, such as Bethlem myopathy and Ullrich congenital muscular dystrophy, cause muscle contractures to ... 4. Structural and functional consequences of skeletal muscle fibrosis". American Journal of Physiology. Cell Physiology. 305 (3 ... In the metabolic myopathies of GSD-V (McArdle disease) and GSD-VII (Tarui disease), temporary muscle contractures develop in ... In Bethlem myopathy 1, contractures presenting in infancy may resolve by age 2 years, but reoccur as the disease progresses, ...
Observation like general structural malformation in the third trimester suggests congenital muscular dystrophy. Further ... 80% - 99% individuals display various myopathy. In general, they manifest severe muscle weakness and retarded motor development ... MEB is caused by mutations in the POMGnT1 gene, it is congenital and inherited as an autosomal recessive disorder. There is no ... Manifestations in structural malformation are common as well. Hypoplasia of mesencephalon, pons, cerebellum and medulla are ...
Defects in Collagen VI are associated with Ullrich congenital muscular dystrophy and Bethlem myopathy. Phenotypes associated ... by providing stability and structural support in the ECM. ColVI allows muscle cells to connect with the ECM by interacting with ... Biopsied muscle tissue samples in individuals with Ullrich congenital muscular dystrophy and Bethlem myopathy showed a ... Bethlem myopathy is the mildest form of Collagen VI related myopathies. Related symptoms include ligamentous laxity, hypotonia ...
Heterozygous mutations in TPM2 have been identified in patients with congenital cap myopathy, a rare disorder defined by cap- ... "Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients". Human ... Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A (Sep 2007). "Congenital myopathy with nemaline rods and cap structures caused by ... Mutations in TPM2 have also been associated with nemaline myopathy, a rare disorder characterized by muscle weakness and ...
... type 3 nemaline myopathy, congenital myopathy with an excess of thin myofilaments (CM) and congenital myopathy with fibre type ... A number of structural disorders associated with point mutations of this gene have been described that cause malfunctioning of ... in addition to typical nemaline myopathy some specialists distinguish another type of myopathy called actinic nemaline myopathy ... "Missense mutations of ACTA1 cause dominant congenital myopathy with cores". Journal of Medical Genetics. 41 (11): 842-848. doi: ...
This may result in desmin-related myopathy. Another cause of muscular diseases is a mutation in the SYNC gene. Mutations that ... Syncoilin is characterized as an intermediate filament and contains the key structural features that make up intermediate ... Duchenne muscular dystrophy Becker muscular dystrophy Central core disease Congenital muscular dystrophies Neurogenic disorder ... Journal of Structural Biology. 165 (3): 196-203. doi:10.1016/j.jsb.2008.11.002. PMID 19070665. Howman EV, Sullivan N, Poon EP, ...
However, in some cases, the encephalopathy may cause permanent structural changes and irreversible damage to the brain. These ... Encephalomyopathy: A combination of encephalopathy and myopathy. Causes may include mitochondrial disease (particularly MELAS) ... acquired or congenital abnormal cortical development). Early myoclonic epileptic encephalopathy (possibly due to metabolic ... "Long-term tracking of neurological complications of encephalopathy and myopathy in a patient with nephropathic cystinosis: a ...
2000). "Structural requirement of carboxyl-terminal globular domains of laminin alpha 3 chain for promotion of rapid cell ... 1997). "Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1?". Neuromuscul. ... 1997). "Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy". Neuropediatrics. 28 (4): 217- ... 1999). "Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy". Neuromuscul. Disord. 9 (5): 326-9. ...
Low Muscle Tone Benign Congenital Hypotonia Congenital Hypotonia Congenital Muscle Hypotonia Congenital Muscle Weakness ... Developmental delay can indicate hypotonia.[citation needed] MRI Brain is used to rule out structural malformations in the ... including myotubular myopathy) Central core disease CHARGE syndrome Cohen syndrome Costello syndrome Dejerine-Sottas disease ( ... congenital) Sensory processing disorder Developmental coordination disorder Hypothyroidism (congenital) Hypotonic cerebral ...
Ullrich congenital muscular dystrophy and Bethlem myopathy - defects in collagen (type VI and XII), results in progressive ... These tissues form a framework, or matrix, for the body, and are composed of two major structural protein molecules: collagen ... Congenital contractural arachnodactyly - also known as Beals syndrome. It is akin to Marfan syndrome but with contractures of ... "Congenital contractural arachnodactyly". Genetics Home Reference. Retrieved 2019-11-19. Reference, Genetics Home. "Loeys-Dietz ...
May 2009). "The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and ... In all known cases, the disease progresses with conditions that include: congenital cataracts, loss of motor abilities, ... The IMS will become bloated with partially folded proteins with structural damage. This damage may cause cytochrome c depletion ...
Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the ... 1996). "Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures". Nat. Genet. 14 (1): ... GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview v t e (Articles with short description, Short ... 1994). "Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen ...
Structural instability has been indicated in four of the patients, with particular sensitivity to increased temperature ... Koop A, Bistrian BR (1996). "Inherited metabolic myopathy and hemolysis due to a mutation in aldolase A". The New England ... Typically diagnosed at birth, congenital nonspherocytic hemolytic anemia is characterised by premature destruction of red blood ... In non-contiguous patients an aggravated form of adolase A deficiency has been seen to manifest in myopathy (muscular ...
Congenital Dystrophies-Neuromuscular disorders precision medicine conference cornell.edu. Retrieved 2022-02-21. Santhera ... Late-Onset Myopathy. Cell Metab 17, 731-744. PMID 23602450 Guridi, M., Tintignac, L. A., Lin, S., Kupr, B., Castets, P. and ... "The calcium sensor Copine-6 regulates spine structural plasticity and learning and memory". Nature Communications. 19 (7): ... for the last 20 years his laboratory is interested in understanding the disease mechanisms involved in congenital muscular ...
A congenital kyphosis can also suddenly appear in the teenage years, more commonly in children with cerebral palsy and other ... Gibbus deformity is a form of structural kyphosis, often a sequela to tuberculosis. Post-traumatic kyphosis (M84.0) can arise ... Steinmetz Konrad II the Hunchback Władysław the Hunchback Louis the Hunchback Inge the Hunchback Topper Headon Bethlem myopathy ... McMaster MJ, Singh H (October 1999). "Natural history of congenital kyphosis and kyphoscoliosis. A study of one hundred and ...
Tajsharghi H, Darin N, Tulinius M, Oldfors A (Apr 2005). "Early onset myopathy with a novel mutation in the Selenoprotein N ... GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview GeneReviews/NCBI/NIH/UW entry on Multiminicore Disease ... "Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif". The Journal of Biological ... Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal ...
Mutations in this gene are associated with Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, and autosomal recessive ... 1994). "Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen ... 1996). "Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures". Nat. Genet. 14 (1): ... GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview v t e (Articles with short description, Short ...
TN-X has been proposed to have an important structural and architectural function, especially within the skin. In fact, in ... August 2015). "Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia". The Journal ... muscle weakness and contractures support overlap with collagen VI myopathies". American Journal of Medical Genetics. Part A. ... September 2016). "Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia". ...
This is a congenital disease most commonly found in small breeds such as the Brussels Griffon and the Cavalier King Charles ... It is caused by hair follicles that are misfunctioning due to structural abnormality. Dermoid sinus a genetic, autosomal skin ... Dancing Dobermann disease is a type of myopathy that primarily affects the gastrocnemius muscle in Dobermanns. It usually ... Congenital deafness can be genetic, seen sometimes in dogs with merle or white coats, or caused by in utero damage from ...
Other Names: IBM3; Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles; Inclusion body myopathy ... but all share similar structural features in the muscles. HIBMs are a group of muscle wasting disorders that are uncommon in ... Distal myopathy with rimmed vacuoles; DMRV; Nonaka myopathy; Rimmed vacuole myopathy; Quadriceps Sparing Myopathy; GNE myopathy ... Myopathy With Congenital Joint Contractures, Ophthalmoplegia, And Rimmed Vacuoles Inclusion Body Myopathy 3, Autosomal Dominant ...
... cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tubular aggregates (TAs) characterized predominantly by ... Myopathies, Structural, Congenital / drug therapy * Myopathies, Structural, Congenital / enzymology * Myopathies, Structural, ... congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy ... cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tubular aggregates (TAs) characterized predominantly by ...
Inherited myopathies are often characterized by spinal rigidity. • Whole body magnetic resonance imaging is a unique tool to ... Inherited myopathies are rare, diagnosis is challenging and genetic tests require specialized centres and often take years. • ... Keywords: Muscular diseases; Muscular dystrophies; Myopathies, structural, congenital; Spinal curvatures; Whole body imaging. ... Each myopathy had a specific pattern of affected muscles recognizable on mWB-MRI. This allowed us to create a novel decision ...
This creates structural problems throughout the skeletal muscle and in the Z line of the sarcomere, creating the weakness in ... "congenital myopathy" can vary. One source includes nemaline myopathy, myotubular myopathy, central core myopathy, congenital ... Congenital myopathies with inclusion bodies and protein accumulation is a broad category, and some congenital myopathies that ... Since smaller type 1 fibers is not associated with nemaline myopathy, the most common type of congenital myopathy, it has not ...
February 2011 CASE REPORT RYR1-related central core myopathy in a Chinese adolescent boy Bosco Chan, Sammy PL Chen, WC Wong, ... Key words: Malignant hyperthermia; Mutation, missense; Myopathy, central core; Myopathies, structural, congenital; Ryanodine ... RYR1-related central core myopathy in a Chinese adolescent boy. Bosco Chan, Sammy PL Chen, WC Wong, Chloe M Mak, S Wong, KY ... Central core myopathy is a rare, inherited neuromuscular disorder with a wide spectrum of phenotypic presentations. It is also ...
ABCC9-related Intellectual disability Myopathy Syndrome). Our efforts are directed towards understanding the structural and ... Genetic variations in the KATP channel genes have been linked to several human diseases including congenital hyperinsulinism, ...
... cardiac death events in athletes are due to ventricular arrhythmias as a result of underlying molecular and/or structural level ... Structural Cardiac Abnormalities Associated with SCD. Structural myopathies, including hypertrophic cardiomyopathy, ... Clinical profile of congenital coronary artery with origin from the wrong aortic sinus leading to sudden death in young ... There are at least 13 types of congenital LQTS that have been identified as a result of hundreds of mutations within ten ...
congenital ptosis + congenital stationary night blindness + congenital stromal corneal dystrophy congenital structural myopathy ... spondyloepiphyseal dysplasia with congenital joint dislocations T-cell immunodeficiency, congenital alopecia, and nail ... palmoplantar keratoderma and congenital alopecia 1 (DOID:0111244). Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) ... Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts Aplasia Cutis Congenita, High Myopia, and Cone-Rod ...
Biopsy of their muscles showed evidence of chronic myopathy without distinguishing characteristics. ... A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine ... Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet. 1998 May. 19(1):94-7. [QxMD MEDLINE Link]. ... A case of congenital defect of the muscular system (dystrophia muscularis congenita) and its association with congenital ...
MYOPATHY, CENTRAL CORE. MIOPATIA DA PARTE CENTRAL. MIOPATIAS ESTRUCTURALES CONGENITAS. MYOPATHIES, STRUCTURAL, CONGENITAL. ... MYASTHENIC SYNDROMES, CONGENITAL. SÍNDROMES MIASTÊNICAS CONGÊNITAS. SINDROMES NEUROCUTANEOS. NEUROCUTANEOUS SYNDROMES. ...
MYOPATHY, CENTRAL CORE. MIOPATIA DA PARTE CENTRAL. MIOPATIAS ESTRUCTURALES CONGENITAS. MYOPATHIES, STRUCTURAL, CONGENITAL. ... MYASTHENIC SYNDROMES, CONGENITAL. SÍNDROMES MIASTÊNICAS CONGÊNITAS. SINDROMES NEUROCUTANEOS. NEUROCUTANEOUS SYNDROMES. ...
MYOPATHY, CENTRAL CORE. MIOPATIA DA PARTE CENTRAL. MIOPATIAS ESTRUCTURALES CONGENITAS. MYOPATHIES, STRUCTURAL, CONGENITAL. ... MYASTHENIC SYNDROMES, CONGENITAL. SÍNDROMES MIASTÊNICAS CONGÊNITAS. SINDROMES NEUROCUTANEOS. NEUROCUTANEOUS SYNDROMES. ...
MYOPATHIES, STRUCTURAL, CONGENITAL MIOPATIAS ESTRUCTURALES CONGENITAS MIOPATIAS CONGÊNITAS ESTRUTURAIS MYOPATHY, CENTRAL CORE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES MIASTÊNICAS CONGÊNITAS MYOCLONIC EPILEPSIES, ...
MYOPATHIES, STRUCTURAL, CONGENITAL MIOPATIAS ESTRUCTURALES CONGENITAS MIOPATIAS CONGÊNITAS ESTRUTURAIS MYOPATHY, CENTRAL CORE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES MIASTÊNICAS CONGÊNITAS MYOCLONIC EPILEPSIES, ...
MYOPATHY, CENTRAL CORE MIOPATIA DEL NUCLEO CENTRAL MIOPATIAS CONGÊNITAS ESTRUTURAIS MYOPATHIES, STRUCTURAL, CONGENITAL ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
MYOPATHY, CENTRAL CORE. MIOPATIA DA PARTE CENTRAL. MIOPATIAS ESTRUCTURALES CONGENITAS. MYOPATHIES, STRUCTURAL, CONGENITAL. ... MYASTHENIC SYNDROMES, CONGENITAL. SÍNDROMES MIASTÊNICAS CONGÊNITAS. SINDROMES NEUROCUTANEOS. NEUROCUTANEOUS SYNDROMES. ...
MYOPATHIES, STRUCTURAL, CONGENITAL MIOPATIAS ESTRUCTURALES CONGENITAS MIOPATIAS CONGÊNITAS ESTRUTURAIS MYOPATHY, CENTRAL CORE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES MIASTÊNICAS CONGÊNITAS MYOCLONIC EPILEPSIES, ...
MYOPATHY, CENTRAL CORE MIOPATIA DEL NUCLEO CENTRAL MIOPATIAS CONGÊNITAS ESTRUTURAIS MYOPATHIES, STRUCTURAL, CONGENITAL ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
MYOPATHIES, STRUCTURAL, CONGENITAL MIOPATIAS ESTRUCTURALES CONGENITAS MIOPATIAS CONGÊNITAS ESTRUTURAIS MYOPATHY, CENTRAL CORE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES MIASTÊNICAS CONGÊNITAS MYOCLONIC EPILEPSIES, ...
MYOPATHIES, STRUCTURAL, CONGENITAL MIOPATIAS ESTRUCTURALES CONGENITAS MIOPATIAS CONGÊNITAS ESTRUTURAIS MYOPATHY, CENTRAL CORE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES MIASTÊNICAS CONGÊNITAS MYOCLONIC EPILEPSIES, ...
MYOPATHY, CENTRAL CORE MIOPATIA DEL NUCLEO CENTRAL MIOPATIAS CONGÊNITAS ESTRUTURAIS MYOPATHIES, STRUCTURAL, CONGENITAL ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
Structural myopathies (10). *Metabolic myopathies (4). *Myotonia (3). *Congenital myasthenia (1). *Arthrogryposis (3) ... Congenital myasthenia. Home / Clinical areas / Neurology / Genetic Muscle Disorders [GMD] / Congenital myasthenia. ...
Collagen VI-related myopathy is a group of disorders that affect skeletal muscles and connective tissues. Explore symptoms, ... Genetic Testing Registry: Collagen 6-related myopathy *Genetic Testing Registry: Ullrich congenital muscular dystrophy 1 ... This matrix is an intricate lattice that forms in the space between cells and provides structural support. The extracellular ... Allamand V, Brinas L, Richard P, Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? ...
Congenital Structural Myopathies 100% * Mitochondrial Myopathies 93% * Malignant hyperthermia susceptibility type 1 76% ... Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1 ...
Congenital Structural Myopathies 49% 4 Scopus citations * A mitotic chromatin phase transition prevents perforation by ... Ali, R., Zahm, J. A. & Rosen, M. K., Apr 2022, In: Nature Structural and Molecular Biology. 29, 4, p. 320-328 9 p.. Research ... Lactate metabolism is essential in early-onset mitochondrial myopathy. Chen, Z., Bordieanu, B., Kesavan, R., Lesner, N. P., ...
... congenital/structural, and inflammatory myopathies. ... or maldistribution in corresponding myopathies, sometimes with ...
... in contrast to other types of congenital myopathies such as nemaline myopathy or core myopathy. Case reports: We report two ... There was no evidence of structural heart diseases or heart failure. The arrhythmia gradually resolved spontaneously and at 11 ... in contrast to other types of congenital myopathies such as nemaline myopathy or core myopathy. CASE REPORTS: We report two ... X-linked myotubular myopathy is one of the most serious types of congenital myopathies, in which an affected male infant ...
Simple Congenital Heart Disease. Apr 10, 2019 by drzezo in COMPUTERIZED TOMOGRAPHY Comments Off on Simple Congenital Heart ... Myopathies. Apr 10, 2019 by drzezo in COMPUTERIZED TOMOGRAPHY Comments Off on Myopathies ... Key Points ▪ Cardiac CTs ability to depict fine structural detail within the heart enables it to characterize the morphologic ... Assessment of Complex and Repaired Congenital Heart Disease. Apr 10, 2019 by drzezo in COMPUTERIZED TOMOGRAPHY Comments Off on ...
... while additional structural alterations only develop with aging. To verify whether the lack of sAnk1 also alters intracellular ... Congenital myopathies: Disorders of excitation-contraction coupling and muscle contraction. Nat Rev Neurol. 2018, 14, 151-167 ... These structural alterations were accompanied by an impairment of electrophysiological properties and force generation in sAnk1 ... On the other hand, with age, KO mice develop structural alterations, like tubular aggregates and contractures that are not ...
  • Central core disease or central core myopathy was first described in 1956 and usually presents in infancy or early childhood as non-progressive mild proximal weakness that persists throughout life. (wikipedia.org)
  • Central core myopathy is a rare, inherited neuromuscular disorder with a wide spectrum of phenotypic presentations. (hkmj.org)
  • We report a case of central core myopathy in a Chinese adolescent boy presenting with atypical clinical features and a moderately elevated serum creatine kinase level. (hkmj.org)
  • This is the first case of central core myopathy confirmed by molecular study in our locality. (hkmj.org)
  • To our knowledge, cardiac involvement has not been previously described in this condition, in contrast to other types of congenital myopathies such as nemaline myopathy or core myopathy. (bvsalud.org)
  • We screened a cohort of 153 patients carrying an histopathological diagnosis of core myopathy (cores and minicores) for RYR1 mutation. (unicatt.it)
  • Further improvement in the comprehension of genotype-phenotype relationship of core myopathies can be expected in the next future: the actual lack of the human RyR1 crystal structure paired with the presence of large intrinsically disordered regions in RyR1, and the frequent presence of more than one RYR1 mutation in core myopathy patients, require designing novel investigation strategies to completely address RyR1 mutation effect. (unicatt.it)
  • citation needed] Myotubular myopathy, also known as centronuclear myopathy, is recognized by pain during exercise and difficulty walking. (wikipedia.org)
  • She is currently working on zebrafish models of centronuclear myopathy with the aim of identifying therapeutic targets for pre/clinical trials. (neuromuscularnetwork.ca)
  • I am currently studying centronuclear myopathy (CNM), a congenital myopathy that has no treatment. (neuromuscularnetwork.ca)
  • MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy. (medscape.com)
  • Congenital myopathies account for one of the top neuromuscular disorders in the world today, comprising approximately 6 in 100,000 live births every year. (wikipedia.org)
  • Congenital muscular dystrophies (CMD) are extremely rare and greatly heterogeneous neuromuscular disorders with onset at birth or early infancy, characterized by hypotonia, delayed motor development, and progressive weakness. (medscape.com)
  • Congenital Myopathies Congenital myopathy is a term sometimes applied to hundreds of distinct neuromuscular disorders that may be present at birth, but it is usually reserved for a group of rare, inherited, primary. (msdmanuals.com)
  • Symptoms of CMD overlap with those of other neuromuscular conditions, including the congenital myopathies and limb-girdle muscular dystrophies, making disease classification and clinical diagnosis challenging. (mdaquest.org)
  • This creates structural problems throughout the skeletal muscle and in the Z line of the sarcomere, creating the weakness in the muscle. (wikipedia.org)
  • Immunohistochemistry may be used for both the identification of normal antigenic constituents in skeletal muscle and their loss, accumulation, or maldistribution in corresponding myopathies, sometimes with small biopsies or lacking frozen tissue, in paraffin sections. (qxmd.com)
  • Accordingly, the volume of SR tubules localized around the myofibrils is strongly reduced in skeletal muscle fibers of 4- and 10-month-old sAnk1 knockout (KO) mice, while additional structural alterations only develop with aging. (mdpi.com)
  • Structural diseases during infancy and adult age comprise the rest of muscular dystrophies: a group of hereditary diseases that affect the skeletal muscle, with the characteristic progressive degeneration of muscle fibers which causes loss of strength. (digitis.net)
  • All such dystrophies are genetically recessive and result from mutations in a variety of different genes including those that encode for structural proteins of the basal membrane or the extracellular matrix of skeletal muscle fibers. (msdmanuals.com)
  • Congenital myopathies with inclusion bodies and protein accumulation is a broad category, and some congenital myopathies that fall within this group are well understood, such as nemaline myopathy (see below). (wikipedia.org)
  • Since smaller type 1 fibers is not associated with nemaline myopathy, the most common type of congenital myopathy, it has not been studied in as great detail as many of the others. (wikipedia.org)
  • citation needed] Nemaline myopathy was first described in 1963 and is the most common congenital myopathy. (wikipedia.org)
  • To date, 9 gene mutations have been found to cause nemaline myopathy. (wikipedia.org)
  • Nemaline myopathy is an autosomal dominant and sometimes an autosomal recessive genetic disorder. (wikipedia.org)
  • In a study of 116 patients in the United Kingdom, the most common congenital muscular dystrophies were collagen VI-related disorders (19%), with α-dystroglycanopathy congenital muscular dystrophy (12%) and merosin-deficient congenital muscular dystrophy (MDC1A) (10%) being next in frequency. (medscape.com)
  • Several authors of review articles have proposed classifications for the congenital muscular dystrophies. (medscape.com)
  • Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness . (symptoma.com)
  • Genetic variations in the K ATP channel genes have been linked to several human diseases including congenital hyperinsulinism, neonatal diabetes, DEND (Developmental delay, Epilepsy, and Neonatal Diabetes) syndrome, dilated cardiomyopathy, Cantú syndrome, and AIMS (ABCC9-related Intellectual disability Myopathy Syndrome). (ohsu.edu)
  • Our efforts are directed towards understanding the structural and molecular basis of K ATP channel biology, and how mutations in the channel genes disrupt channel function. (ohsu.edu)
  • Bethlem myopathy was originally described as a mild disease associated with dominant alleles of these three genes, while Ullrich congenital muscular dystrophy was originally described as a more severe disease associated with recessive alleles. (equiseq.com)
  • For example, mutations in TTN gene may present with a wide range of phenotypes ranging from congenital myopathy to late-onset distal myopathy. (medscape.com)
  • Introduction: Myotubular myopathy is a congenital muscle disease caused by a mutation in the myotubularin (MTM1) gene. (bvsalud.org)
  • The mutant DNM2 fish carrying a severe CNM mutation (S619L) recapitulate patient muscle phenotypes, including structural disruption at the triads (the primary site for excitation-contraction coupling), and significantly impaired muscle performance. (neuromuscularnetwork.ca)
  • A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. (mendelian.org)
  • The K1 genetic variant that has been part of EquiSeq's Myopathy Panel since October 2019 is a missense allele of COL6A3 , a gene encoding a collagen [ 1 ]. (equiseq.com)
  • Missense alleles of COL6A1 , COL6A2 , and COL6A3 are responsible for Bethlem myopathy and Ullrich congenital muscular dystrophy [ 3 - 11 ]. (equiseq.com)
  • Inherited myopathies are rare, diagnosis is challenging and genetic tests require specialized centres and often take years. (nih.gov)
  • Since congenital myopathies are genetic, there have been advancements in prenatal screenings. (wikipedia.org)
  • Several rare forms of congenital muscular dystrophy are not discussed in this article because of the lack of precise molecular and/or genetic information. (medscape.com)
  • Congenital muscular dystrophy (CMD) refers to a group of genetic muscle diseases that become apparent within the first two years after birth. (mdaquest.org)
  • No distinguishing features are present in muscle biopsy specimens, differentiating these disorders from the congenital myopathies. (medscape.com)
  • Reduced or altered transferrin glycosylation is a common sign of N-linked congenital disorders of glycosylation. (cdghub.com)
  • Carbohydrate deficient transferrin is commonly found in N-linked congenital disorders of glycosylation. (cdghub.com)
  • citation needed] Myopathies with central nuclei, such as myotubular myopathy, involves an error in the gene involved in vesicle movement throughout the cell. (wikipedia.org)
  • Myotubular myopathy is very rare, with less than 50 families currently affected. (wikipedia.org)
  • Genetically, myotubular myopathy can have two causes: autosomal dominant and autosomal recessive. (wikipedia.org)
  • The X-linked myotubular myopathy (XLMTM) affects males with early-onset symptoms such as muscle weakness, hypotonia, and respiratory distress. (bvsalud.org)
  • this was the first case of what is now known as Ullrich congenital muscular dystrophy. (medscape.com)
  • Researchers have described several forms of collagen VI-related dystrophy, which range in severity: Bethlem muscular dystrophy is the mildest, an intermediate form is moderate in severity, and Ullrich congenital muscular dystrophy is the most severe. (medlineplus.gov)
  • People with Ullrich congenital muscular dystrophy have severe muscle weakness beginning soon after birth. (medlineplus.gov)
  • Individuals with Ullrich congenital muscular dystrophy develop contractures in their shoulders, elbows, hips, and knees, which further impair movement. (medlineplus.gov)
  • Bethlem muscular dystrophy is estimated to occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy is estimated to occur in 0.13 per 100,000 individuals. (medlineplus.gov)
  • Mutations in human COL6A1 , COL6A2 , and COL6A3 are associated with Bethlem myopathy and Ullrich congenital muscular dystrophy [ 1-11 ]. (equiseq.com)
  • Ullrich congenital muscular dystrophy has been reclassified as a form of limb-girdle muscular dystrophy (LGMDR22) [ 13 ]. (equiseq.com)
  • Human patients with defects in COL6A1 , COL6A2 , or COL6A3 associated with Bethlem or Ullrich myopathy have an array of symptoms including muscle weakness, muscle contractures, muscle atrophy, hyperextensibility in distal joints, rigid spine, abnormal scar tissue, and difficulties in ambulation [ 7 , 11 ]. (equiseq.com)
  • In 1960, Fukuyama et al described a common congenital muscular dystrophy in Japan that always had features of muscular dystrophy and brain pathology. (medscape.com)
  • Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tubular aggregates (TAs) characterized predominantly by affection of the proximal skeletal muscles and presence of highly organized and remodeled sarcoplasmic tubules in patients' muscle biopsies. (nih.gov)
  • Inherited myopathies are major causes of muscle atrophy and are often characterized by rigid spine syndrome, a clinical feature designating patients with early spinal contractures. (nih.gov)
  • Congenital central hypoventilation syndrome: diagnosis and management. (nih.gov)
  • The disease can be primary or secondary to various congenital heart diseases, most notably hypoplastic left heart syndrome, aortic stenosis, or atresia. (medscape.com)
  • We are now focusing on two other forms of muscular dystrophy, Facioscapulohumeral Muscular Dystrophy (FSHD), and the dysferlinopathies, Limb Girdle Muscular Dystrophy Type 2 B and Miyoshi Myopathy (LGMD2B/MMD1). (blochlab.com)
  • The combined analysis of the clinical presentation, disease progression and the structural bioinformatic analyses of RYR1 allowed to associate some phenotypes to mutations in specific domains. (unicatt.it)
  • There are two major forms recognized based on clinical and molecular presentation: Myotonic dystrophy type I (DM1), known as Steinert disease, and myotonic dystrophy type II (DM2), or proximal myotonic myopathy which is a milder variety of DMI. (rxharun.com)
  • The routine use of sotalol and amiodarone hypotension increased risk of congenital abnormalities. (familytreecounseling.com)
  • It can be associated with neurological defects or syndromes, structural eye abnormalities and craniofacial syndromes. (nvisioncenters.com)
  • This is the result of a mechanical restriction or tightness, possibly from fibrosis of muscle tissue, thyroid myopathy or physical obstruction of the muscle responsible for eye movement. (nvisioncenters.com)
  • We have included an additional panel, chosen for particular characteristics on muscle biopsy, for the study of myofibrillar and protein aggregate myopathies . (digitis.net)
  • Selcen D. Myofibrillar myopathies. (digitis.net)
  • Application of this definition has led to exclusion of 10 conditions from the previous LGMD umbrella, including myofibrillar myopathy (LGMD1E). (medscape.com)
  • Collagens are a family of proteins that are the main structural components of the connective tissue. (equiseq.com)
  • We have learned that the organization of structural proteins at the sarcolemma, and especially at costameres , is affected in several forms of muscular dystrophy. (blochlab.com)
  • We aim to present a decision algorithm based on muscular whole body magnetic resonance imaging (mWB-MRI) as a unique tool to orientate the diagnosis of each inherited myopathy long before the genetically confirmed diagnosis. (nih.gov)
  • We provide a novel decision algorithm based on muscle fat replacement graded on mWB-MRI that allows diagnosis and differentiation of inherited myopathies presenting with spinal rigidity. (nih.gov)
  • Whole body magnetic resonance imaging is a unique tool to orientate the diagnosis of each inherited myopathy presenting with spinal rigidity. (nih.gov)
  • Each inherited myopathy in this study has a specific pattern of affected muscles that orientate diagnosis. (nih.gov)
  • A novel MRI-based algorithm, usable by every radiologist, can help the early diagnosis of these myopathies. (nih.gov)
  • Chapter obstetric emergencies venous thromboembolism: Diagnosis if diagnostic imaging current structural scanning methods andorra viagra. (familytreecounseling.com)
  • Hypotonia, rather than myotonia, is a hallmark of congenital DMI since myotonia or electrical myotonia are seldom present in the first year of life. (rxharun.com)
  • Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. (nictiz.nl)
  • Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. (mendelian.org)
  • X-chromosome association studies of congenital heart defects. (mendelian.org)
  • Since that time there has been intense scientific interest in the study of cardiac adaptation to repetitive bouts of vigorous activity, athletic performance, and the pathophysiology of structural, functional, and electrical cardiac diseases in competitive athletes. (scienceopen.com)
  • The HLA locus contains novel foetal susceptibility alleles for congenital heart block with significant paternal influence. (cdc.gov)
  • Key Points ▪ Although echocardiography plus MRI is still the best overall modality for the evaluation of complex congenital heart lesions, especially postoperatively, there are exceptions. (radiologykey.com)
  • Key Points ▪ Although echocardiography and MRI are still the best overall modalities for the evaluation of aortic and complex congenital heart lesions, especially postoperatively, there are exceptions. (radiologykey.com)
  • Between February 2005 and December 2015, 76 patients with genetically confirmed inherited myopathy were included. (nih.gov)
  • Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. (mendelian.org)
  • Here, we present cryo-EM reconstructions of RyR1 in multiple functional states revealing the structural basis of channel gating and ligand-dependent activation. (ryr1.org)
  • In addition, this study highlighted the structural bioinformatics potential in the prediction of the pathogenicity of RYR1 mutations. (unicatt.it)
  • Use of three-dimensional echocardiography for evaluation of outflow obstruction in congenital coronary heart disease. (grandkitesurfing.com)
  • Myotonic dystrophy (DM) is considered a subgroup of myopathy and the most common type of muscular dystrophy that begins in adulthood. (rxharun.com)
  • 2023). C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD. (upenn.edu)
  • observable via light microscope Symptoms of muscle weakness and hypotonia Is a congenital disorder, meaning it occurs during development and symptoms present themselves at birth or in early life. (wikipedia.org)
  • Congenital myopathy is a very broad term for any muscle disorder present at birth. (wikipedia.org)
  • citation needed] 'Core myopathies' such as multicore myopathy and central core disease are characterized by sharply-demarcated areas devoid of oxidative enzymes NADH, SDH, and COX, in muscle fibres. (wikipedia.org)
  • There are rarely any specific tests for the congenital myopathies except for muscle biopsy. (wikipedia.org)
  • Three broad categories of muscle diseases will be characterized in terms of diagnostic antibodies in current use: dystrophic, congenital/structural, and inflammatory myopathies. (qxmd.com)
  • Congenital Myotonic Dystrophy (CDM) - The congenital form presents in about 15% of cases, with fetal-onset involvement of muscle and the CNS, and typically is seen in those with more than 1,000 repeats. (rxharun.com)
  • Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2008 Dec 27 82-9. (cdc.gov)
  • Congenital muscular dystrophy is not a single disorder but instead refers to muscular dystrophy evident at birth or in infancy, occurring from any of several rare forms of muscular dystrophy. (msdmanuals.com)
  • Each myopathy had a specific pattern of affected muscles recognizable on mWB-MRI. (nih.gov)
  • Rare forms of CMD may cause structural brain defects and affect intellectual ability. (mdaquest.org)
  • Secondary endocardial fibroelastosis is associated with other congenital heart diseases. (medscape.com)
  • Macular retinal dystrophy, myopathy, cardiac disease. (familytreecounseling.com)
  • ACE I/D polymorphism associated with abnormal atrial and atrioventricular conduction in lone atrial fibrillation and structural heart disease: implications for electrical remodeling. (cdc.gov)
  • Genotypic and phenotypic predictors of complete heart block and recovery of conduction after surgical repair of congenital heart disease. (cdc.gov)
  • Key Points ▪ Contrast-enhanced CT scanning is well suited to imaging congenital anatomic variants of the cavae as well as caval pathologies, including caval thrombi, tumors, obstructions, and occlusions. (radiologykey.com)
  • The majority of sudden cardiac death events in athletes are due to ventricular arrhythmias as a result of underlying molecular and/or structural level pathologic substrate. (scienceopen.com)
  • Christopher F. Liu, MD, FACC, FHRS is Director of Complex Arrhythmia Ablation and Structural Heart Electrophysiology, and Assistant Director of the Cardiac Electrophysiology Laboratory, at New York-Presbyterian Hospital / Weill Cornell Medical Center. (weillcornell.org)
  • Congenital myopathies-a comprehensive update of recent advancements. (digitis.net)
  • Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato. (mendelian.org)