GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy

Zeng, YH; Yang, K; Du, GQ; Chen, YK; Cao, CY; Qiu, YS; He, J; Lv, HD; Qu, QQ; Chen, JN; Xu, GR; Chen, L; Zheng, FZ; Zhao, M; Lin, MT; Chen, WJ; Hu, J; Wang, ZQ; Wang, N

Wang, ZQ; Wang, N (通讯作者)，Fujian Med Univ, Affiliated Hosp 1, Inst Neurosci, Dept Neurol, Fuzhou 350005, Peoples R China.;Wang, ZQ; Wang, N (通讯作者)，Fujian Med Univ, Affiliated Hosp 1, Inst Neurosci, Inst Neurol, Fuzhou 350005, Peoples R China.;Wang, ZQ; Wang, N (通讯作者)，Fujian Med Univ, Fujian Key Lab Mol Neurol, Fuzhou 350005, Peoples R China.

ANNALS OF NEUROLOGY, 2022; 92 (3): 512

Abstract

Objective Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ptosis, dysarthria, ophthalmoplegia......

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