Ontology highlight
ABSTRACT:
SUBMITTER: Calakos N
PROVIDER: S-EPMC2891583 | biostudies-literature | 2010 Sep
REPOSITORIES: biostudies-literature
Calakos Nicole N Patel Viren D VD Gottron Melissa M Wang Gaofeng G Tran-Viet Khan-Nhat KN Brewington Danielle D Beyer John L JL Steffens David C DC Krishnan Ranga R RR Züchner Stephan S
Journal of medical genetics 20091202 9
<h4>Background</h4>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.<h4>Results</h4>A novel TOR1A missense mutation (c.613T-->A, p.F205I) in a patient with late onset, focal d ...[more]