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myoclonic dystonia 11
Summary
- 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.
- Super Class
- autosomal dominant disease myoclonic dystonia
External Links
- Disease Ontology
- DOID:0090034
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51649 | Succinate-semialdehyde dehydrogenase, mitochondrial |
