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Nutritional Muscular Dystrophy (Nutritional Myopathy or White Muscle Disease) is a disease caused by a deficiency of selenium and vitamin E in dietary intake. [1] Soils that contains low levels of selenium produce forages and grains that are deficient in selenium.
Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially affects the hands and/or feet, a much less common pattern than proximal muscle weakness. Late adult-onset type 1; Late adult-onset type 2a; Late adult-onset type 2b; Early adult-onset type 1; Early adult-onset type 2; Early adult-onset ...
The symptoms of Bethlem myopathy may overlap with other conditions including Emery–Dreifuss muscular dystrophy, congenital muscular dystrophies, limb girdle muscular dystrophies, FHL1-related myopathies (X-linked myopathy with postural muscle atrophy, reducing body myopathy, and scapuloperoneal myopathy), and some forms of Ehlers–Danlos ...
58916 Ensembl ENSG00000120729 ENSMUSG00000024471 UniProt Q9UBF9 Q9JIF9 RefSeq (mRNA) NM_006790 NM_001135940 NM_001300911 NM_001033621 RefSeq (protein) NP_001129412 NP_001287840 NP_006781 NP_001028793 Location (UCSC) Chr 5: 137.87 – 137.89 Mb Chr 18: 44.47 – 44.49 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Myotilin is a protein that in humans is encoded by the MYOT gene ...
Genetic testing Dystrophinopathy refers to a spectrum of diseases due to mutations in the DMD gene, which encodes for the dystrophin protein found in muscle. [ 1 ] [ 2 ] [ 3 ] The severe end of the spectrum includes Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and DMD -associated dilated cardiomyopathy .
The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing. A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy.
Central core disease (CCD), also known as central core myopathy, is an autosomal dominant inherited [1] muscle disorder present from birth that negatively affects the skeletal muscles. It was first described by Shy and Magee in 1956. [2] [3] It is characterized by the appearance of the myofibril under the microscope. [4]
In neuromuscular disease, a variety of factors can influence the compositional and micro structural aspects of muscle, including most notably muscle fiber atrophy and disorganization, the deposition of fat and connective tissues, as occurs in muscular dystrophy, and the presence of inflammation, among many other pathologies. EIM captures these ...