Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

Paroxysmal non-kinesigenic dyskinesia (PNKD) is a rare autosomal dominant movement disorder triggered by stress, fatigue or consumption of either alcohol or caffeine. Attacks last 1–4 h and consist of dramatic dystonia and choreoathetosis in the limbs, trunk and face. The disease is associated with...

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Detalles Bibliográficos
Autores principales: Shen, Yiguo, Lee, Hsien-Yang, Rawson, Joel, Ojha, Sunil, Babbitt, Patricia, Fu, Ying-Hui, Ptáček, Louis J.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098736/
https://www.ncbi.nlm.nih.gov/pubmed/21487022
http://dx.doi.org/10.1093/hmg/ddr125

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098736/
https://www.ncbi.nlm.nih.gov/pubmed/21487022
http://dx.doi.org/10.1093/hmg/ddr125

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