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

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 Chine...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014010/
https://www.ncbi.nlm.nih.gov/pubmed/36691350
http://dx.doi.org/10.1002/acn3.51733