Advances in the genetics of primary torsion dystonia.
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ABSTRACT:
SUBMITTER: Valente EM
PROVIDER: S-EPMC2950024 | biostudies-literature | 2010 Jun
REPOSITORIES: biostudies-literature
Publications
Advances in the genetics of primary torsion dystonia.
Valente Enza Maria EM Albanese Alberto A
F1000 biology reports 20100616
Knowledge about the genetics of primary torsion dystonia (PTD) has been progressing at a very slow pace compared with other movement disorders. For many years, only one causative gene was known, DYT1/TOR1A, yet the recent identification of a second PTD causative gene (DYT6/THAP1), the detection of subclinical alterations caused by mutations in PTD genes in some healthy non-penetrant individuals, and functional studies on TOR1A and THAP1 protein products have significantly improved mutation detec ...[more]
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