Term Name: | myoclonic dystonia 11 |
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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. |
Ontology: | Human Disease [DOID:0090034] ( DOID:0090034 ) |