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- Title
Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.
- Authors
Calakos, Nicole; Patel, Viren D; Gottron, Melissa; Wang, Gaofeng; Tran-Viet, Khan-Nhat; Brewington, Danielle; Beyer, John L; Steffens, David C; Krishnan, Ranga R; Züchner, Stephan
- Abstract
TOR1A encodes a chaperone-like AAA-ATPase whose Delta GAG (Delta E) mutation is responsible for an early onset, generalised dystonia syndrome. Because of the established role of the TOR1A gene in heritable generalised dystonia (DYT1), a potential genetic contribution of TOR1A to the more prevalent and diverse presentations of late onset, focal dystonia has been suggested.
- Publication
Journal of medical genetics, 2010, Vol 47, Issue 9, p646
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2009.072082