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Mutations in GNAL cause primary torsion dystonia
- 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
Published Web Location
https://doi.org/10.1038/ng.2496Abstract
Laurie Ozelius and colleagues identify mutations in GNAL in families with primary torsion dystonia, a movement disorder characterized by repetitive twisting muscle contractions and postures. GNAL encodes Gαolf, a stimulatory G protein α subunit.
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