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Article

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

Brain : a journal of neurology - 3 Mar 2021

Xi Jianying, Wang Xilu, Yue Dongyue, Dou Tonghai, Wu Qunfeng, Lu Jun, Liu Yiqi, Yu Wenbo, Qiao Kai, Lin Jie, Luo Sushan, Li Jing, Du Ailian, Dong Jihong, Chen Yan, Luo Lijun, Yang Jie, Niu Zhenmin, Liang Zonghui, Zhao Chongbo, Lu Jiahong, Zhu Wenhua, Zhou Yan

Abstract excerpt

Oculopharyngodistal myopathy is a late-onset degenerative muscle disorder characterized by ptosis and weakness of the facial, pharyngeal, and distal limb muscles. A recent report suggested a non-coding trinucleotide repeat expansion in LRP12 to be associated with the disease. Here we report a genetic study in a Chinese cohort of 41 patients with the clinical diagnosis of oculopharyngodistal myopathy (21 cases...

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PMID: 33374016
DOI: 10.1093/brain/awaa426

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