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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
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43556 | Epsilon-sarcoglycan |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O70258 | Epsilon-sarcoglycan |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000739 | Anxiety |
| HP:0010531 | Spinal myoclonus |
| HP:0000716 | Depression |
| HP:0001336 | Myoclonus |
| HP:0000473 | Torticollis |
| HP:0002356 | Writer's cramp |
| HP:0000722 | Compulsive behaviors |
| HP:0012075 | Personality disorder |
| HP:0001332 | Dystonia |
