5 ' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy

Xi, JY; Wang, XL; Yue, DY; Dou, TH; Wu, QF; Lu, J; Liu, YQ; Yu, WB; Qiao, K; Lin, J; Luo, SS; Li, J; Du, AL; Dong, JH; Chen, Y; Luo, LJ; Yang, J; Niu, ZM; Liang, ZH; Zhao, CB; Lu, JH; Zhu, WH; Zhou, Y

Zhu, WH (corresponding author), Fudan Univ, Huashan Hosp, Dept Neurol, 12 Middle Wulumuqi Rd, Shanghai 200040, Peoples R China.; Zhou, Y (corresponding author), Fudan Univ, Sch Life Sci, State Key Lab Genet Engn, 2005 Songhu Rd, Shanghai 200438, Peoples R China.

BRAIN, 2021; 144 (): 601

Abstract

Oculopharyngodistal myopathy is a late-onset degenerative muscle disorder characterized by ptosis and weakness of the facial, pharyngeal, and distal l......

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