Variants
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Potassium-aggravated myotonia

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Description

In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

217

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Genes

External Links

  • OMIM

    608390

  • Orphanet
  • HPO
  • Medgen

    C2931826

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