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myotónia kongenitálna

  1. Subject h.myotónia kongenitálna
    Subject h.Myotonia Congenita
    Entry termsmyotonia congenita hereditaria Thomsen
    Beckerova generalizovaná myotónia
    Thomsenova choroba
    English X referencesBecker Generalized Myotonia
    Myotonia, Generalized, Becker
    Thomsen Disease
    Scope note in EnglishInherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.
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