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dystrofia svalová okulofaryngeálna

  1. Subject h.dystrofia svalová okulofaryngeálna
    Subject h.Muscular Dystrophy, Oculopharyngeal
    Entry termsdystrofia muskulárna okulofaryngálna
    Scope note in EnglishAn autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.
    See also reference (FX) in Slovak poly(A)-viažuci proteín II
    See also reference (FX) in English Poly(A)-Binding Protein II
    Links (5) - ARTICLES
    (1) - MeSH descriptor
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