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GTR Home > Conditions/Phenotypes > Congenital myasthenic syndrome 16

Congenital myasthenic syndrome 16

Synonyms
Congenital myasthenic syndrome, acetazolamide-responsive; SCN4A-Related Congenital Myasthenic Syndrome

Summary

Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by Arnold et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Available tests

59 tests are in the database for this condition.

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Clinical tests (59 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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