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dystrofín

  1. Subject h.dystrofín
    Subject h.Dystrophin
    Scope note in EnglishA 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.
    See also reference (FX) in Slovak myši inbredné mdx
    Duchenneova svalová dystrofia
    See also reference (FX) in English Mice, Inbred mdx
    Muscular Dystrophy, Duchenne
    Links (17) - ARTICLES
    (2) - MeSH descriptor
    (1) - CiBaMed
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Number of the records: 1  

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