Article
Mutations in GNAL cause primary torsion dystonia.
Nature genetics - 1 Jan 2013
Fuchs Tania, Saunders-Pullman Rachel, Masuho Ikuo, Luciano Marta San, Raymond Deborah, Factor Stewart, Lang Anthony E, Liang Tsao-Wei, Trosch Richard M, White Sierra, Ainehsazan Edmond, Hervé Denis, Sharma Nutan, Ehrlich Michelle E, Martemyanov Kirill A, Bressman Susan B, Ozelius Laurie J
Abstract excerpt
Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures. Its molecular pathophysiology is poorly understood, in part owing to limited knowledge of the genetic basis of the disorder. Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1), THAP1 (DYT6) and CIZ1 (ref. 5), have been identified. Using exome sequencing in two families with PTD, we identified a...
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