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X-linked torsion dystonia 3 (X-linked dystonia-parkinsonism)
Pathology:
- movement disorder
Genetics:
- caused by a short interspersed nuclear element variable number of tandem repeats & Alu composite retrotransposon insertion in intron 32 of the TAF1 gene
Clinical manifestations:
- severe progressive torsion dystonia followed by parkinsonism
General
X-linked torsion dystonia
References
UniProt :accession P21675