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),...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2012
Gaiak:
Article
Sarrera elektronikoa: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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