Mutations in GNAL cause primary torsion dystonia

Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures(1,2). Its molecular pathophysiology is poorly understood, in part due to limited knowledge of the genetic basis of the disorder. Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1)(3),...

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Hlavní autoři: 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, Herve, Denis, Sharma, Nutan, Ehrlich, Michelle E., Martemyanov, Kirill A., Bressman, Susan B., Ozelius, Laurie J.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3530620/
https://ncbi.nlm.nih.gov/pubmed/23222958
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2496
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