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Human Disease
myoclonic dystonia 11
- Term ID
- DOID:0090034
- Synonyms
-
- Definition
- A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. (2)
- References
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- ICD10CM:G24.1
- MIM:159900
- ORDO:36899
- Ontology
- Human Disease ( DOID:0090034 )
- is a type of
-
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