Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia

Dystonia is a neurological movement disorder that is clinically and genetically heterogeneous. Herein, we report the identification a novel homozygous missense mutation, c.156 C > A in VPS16, co-segregating with disease status in a Chinese consanguineous family with adolescent-onset primary dysto...

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Veröffentlicht in:Sci Rep
Hauptverfasser: Cai, Xiaodong, Chen, Xin, Wu, Song, Liu, Wenlan, Zhang, Xiejun, Zhang, Doudou, He, Sijie, Wang, Bo, Zhang, Mali, Zhang, Yuan, Li, Zongyang, Luo, Kun, Cai, Zhiming, Li, Weiping
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2016
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4865952/
https://ncbi.nlm.nih.gov/pubmed/27174565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep25834
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