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The Clinical and Genetics Characteristics of Oculopharyngodistal Myopathy

ObjectiveTo analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes.MethodsA total of 65 genetically confirmed OPDM patients from 43 unrelated families, who were admitted to the Department of Neuro...

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Principais autores: YU Jiaxi, QUAN Zhihao, ZHENG Yilei, AN Jing, LIU Jing, WANG Qingqing, MENG Lingchao, YU Meng, XIE Zhiying, DENG Jianwen, LYU He, ZHANG Wei, YUAN Yun, WANG Zhaoxia
Formato: Artigo
Idioma:Chinês
Publicado em: Editorial Office of Journal of Rare Diseases 2026-04-01
coleção:罕见病研究
Assuntos:
oculopharyngodistal myopathy
clinical characteristics
genetics characteristics
genotype-phenotype
Acesso em linha:https://jrd.pumch.cn/article/doi/10.12376/j.issn.2097-0501.2026.02.006
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