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myopatie tyčinkové

  1. Subject h.myopatie tyčinkové
    Subject h.Myopathies, Nemaline
    Entry termsmyopatia nitkovitá
    myopatia tyčinkovitá
    myopatia nemalínová
    myopatia s nitkovitými paličkami
    English X referencesMyopathy, Nemaline
    Myopathy, Rod
    Myopathy, Rod-Body
    Nemaline Myopathies
    Scope note in EnglishA group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
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