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dystonia 24
Summary
- Definition
- A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14.
- Super Class
- autosomal dominant disease focal dystonia
External Links
- Disease Ontology
- DOID:0090052
- ORDO
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9BYT9 | Anoctamin-3 |
