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myopatia s centrálne ležiacim jadrom

  1. Record numberd020512
    Date06.06.2025
    TypeM - MESH
    Topical termmyopatia s centrálne ležiacim jadrom
    Other termEnglish (Pseudonym) Central Core Myopathy
    English (Pseudonym) Shy-Magee Syndrome
    Slovak (Pseudonym) Shyov-Mageeho syndróm
    UDCC05.651.575.300C10.668.491.550.300
    NoteAn inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)
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Number of the records: 1  

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