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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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Hlavní autoři: Shen, Yiguo, Lee, Hsien-Yang, Rawson, Joel, Ojha, Sunil, Babbitt, Patricia, Fu, Ying-Hui, Ptáček, Louis J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2011
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3098736/
https://ncbi.nlm.nih.gov/pubmed/21487022
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr125
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