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Emeryho-Dreifussova svalová dystrofia

  1. Subject h.Emeryho-Dreifussova svalová dystrofia
    Subject h.Muscular Dystrophy, Emery-Dreifuss
    Entry termsEmeryho-Dreifussov syndróm
    Emeryho-Dreifussova svalová dystrofia, autozomálne recesívna
    Emeryho-Dreifussova svalová dystrofia, autozómovo recesívna
    dystrofia muskulárna, typ Emeryho-Dreifussov
    dystrofia svalová skapuloperoneálna
    myopatia skapuloperoneálna, spojená s MYH7
    English X referencesEmery-Dreifuss Syndrome
    Scope note in EnglishA heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations.
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Number of the records: 1  

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