Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.

Shu-Man Feng,Chun-Hui Che,Shu-Yan Feng,Chang-Yun Liu,Liu-Yi Li,Yuan-Xiao Li,Hua-Pin Huang,Zhang-Yu Zou

Annals of clinical and translational neurology（2019）

引用 19|浏览15

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摘要

OPTN mutations contribute to ALS in Chinese population and account for 0.8% of sporadic ALS patients and 1.5% of familial ALS in the pooled Chinese ALS cohorts. Mutations in optineurin can cause aggressive ALS+/-FTD.

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关键词

optineurin,novel mutation,dementia

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