" /> Myoclonus, familial, 1 - CISMeF





Preferred Label : Myoclonus, familial, 1;

Symbol : MYOCL1;

CISMeF acronym : FCM; MYOCL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myoclonus, familial cortical; FCM;

Description : Familial cortical myoclonus is an autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness (summary by Russell et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nucleolar protein-3 gene (NOL3, 605235.0001);

Prefixed ID : #614937;

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03/05/2025


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