" /> Myasthenic syndrome, congenital, 16 - CISMeF





Preferred Label : Myasthenic syndrome, congenital, 16;

Symbol : CMS16;

CISMeF acronym : CMS16;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myasthenic syndrome, congenital, acetazolamide-responsive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sodium channel, voltage-gated, type IV, alpha subunit gene (SCN4A, 603967.0018);

Laboratory abnormalities : Normal potassium levels;

Prefixed ID : #614198;

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30/07/2025


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