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The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy

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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… Click to show full abstract

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.

Keywords: phenotypic genotypic; muscular dystrophy; chinese patients; oculopharyngeal muscular; features chinese; genotypic features

Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2023

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