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GTR Home > Conditions/Phenotypes > Potassium-aggravated myotonia

Potassium-aggravated myotonia

Synonyms
Myotonia congenita, acetazolamide-responsive; Myotonia congenita, atypical; SODIUM CHANNEL MUSCLE DISEASE
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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. [from OMIM]

Available tests

50 tests are in the database for this condition.

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Clinical tests (50 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMS16, CMYO22A, CMYP22A, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1, SCN4A
    Summary: sodium voltage-gated channel alpha subunit 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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