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

Feng Lin,Kang Yang,Min‐ting Lin,Fu‐ze Zheng,Long Chen,Yuan‐liang Ding,Zhi‐xian Ye,Xin Lin,Ning Wang,Zhi‐qiang Wang

Annals of clinical and translational neurology（2023）

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摘要

Our findings indicate wide genetic heterogeneity in OPMD in the Chinese population and demonstrate abnormalities in protein degradation pathways in this disease.

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chinese patients,genotypic features

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