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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530620/
https://www.ncbi.nlm.nih.gov/pubmed/23222958
http://dx.doi.org/10.1038/ng.2496

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