Mutations in CIZ1 cause adult-onset primary cervical dystonia

OBJECTIVE: Primary dystonia is usually of adult onset, can be familial, and frequently involves the cervical musculature. Our goal was to identify the causal mutation in a family with adult-onset, primary cervical dystonia. METHODS: Linkage and haplotype analyses were combined with solution-based wh...

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Hlavní autoři: Xiao, Jianfeng, Uitti, Ryan J., Zhao, Yu, Vemula, Satya R., Perlmutter, Joel S., Wszolek, Zbigniew K., Maraganore, Demetrius M., Auburger, Georg, Leube, Barbara, Lehnhoff, Katja, LeDoux, Mark S.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3334472/
https://ncbi.nlm.nih.gov/pubmed/22447717
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.23547
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