Article
The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy.
Annals of clinical and translational neurology - 1 Mar 2023
Lin Feng, Yang Kang, Lin Min-Ting, Zheng Fu-Ze, Chen Long, Ding Yuan-Liang, Ye Zhi-Xian, Lin Xin, Wang Ning, Wang Zhi-Qiang
Abstract excerpt
OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset inherited neuromuscular disorder, with progressive ptosis and dysphagia as common manifestations. To date, OPMD has rarely been reported among East Asians. The present study summarizes the phenotypic and genotypic features of Chinese patients with OPMD. METHODS: Twenty-one patients with molecularly confirmed OPMD from 9 unrelated families were...
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