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dystrofia svalová okulofaryngeálna

  1. Heslodystrofia svalová okulofaryngeálna
    Heslo anglickyMuscular Dystrophy, Oculopharyngeal
    Odkazydystrofia muskulárna okulofaryngálna
    Vysvetľujúca pozn. v angl.An 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.
    Pozri aj (FX) v slov. poly(A)-viažuci proteín II
    Pozri aj (FX) v angl. Poly(A)-Binding Protein II
    Odkazy (5) - ČLÁNKY
    (1) - heslo MeSH
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Number of the records: 1  

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