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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: | , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Oxford University Press
2011
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| 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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