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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
Ontology
Human Disease   ( DOID:0090034 )
Relationships
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Genes Involved
Zebrafish Models