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torsion dystonia 4
Summary
- Definition
- A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13.
- Super Class
- autosomal dominant disease dystonia
External Links
- Disease Ontology
- DOID:0090041
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51649 | Succinate-semialdehyde dehydrogenase, mitochondrial |
