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GTR Home > Conditions/Phenotypes > Myoclonus, familial, 1

Myoclonus, familial, 1

Synonyms
Familial cortical myoclonus

Summary

Familial myoclonus-1 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). Genetic Heterogeneity of Familial Myoclonus Also see MYOCL2 (618364), caused by mutation in the SCN8A gene (600702) on chromosome 12q13. [from OMIM]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARC, FCM, MYOCL1, MYP, NOP, NOP30, NOL3
    Summary: nucleolar protein 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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