Article
Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.
Scientific reports - 12 May 2016
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
Abstract excerpt
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 dystonia by whole exome sequencing and homozygosity mapping. To assess the biological role of c.156 C > A homozygous...
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