Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy

Xinyu Gu; Jiaxi Yu; Kexin Jiao; Jianwen Deng; Xingyu Xia; Kai Qiao; Dongyue Yue; Mingshi Gao; Chongbo Zhao; Jihong Dong; Gongchun Huang; Jingli Shan; Chuanzhu Yan; Li Di; Yuwei Da; Wenhua Zhu; Jianying Xi; Zhaoxia Wang

doi:10.1136/jmg-2023-109345

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Neurogenetics

Original research

Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy

Authors

Xinyu Gu Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China PubMed articles Google scholar articles
Jiaxi Yu Department of Neurology, Peking University First Hospital, Beijing, China PubMed articles Google scholar articles
Kexin Jiao Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China PubMed articles Google scholar articles
Jianwen Deng Department of Neurology, Peking University First Hospital, Beijing, China PubMed articles Google scholar articles
Xingyu Xia Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China PubMed articles Google scholar articles
Kai Qiao Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China PubMed articles Google scholar articles
Dongyue Yue Department of Neurology, Jing'an District Center Hospital of Shanghai, Shanghai, China PubMed articles Google scholar articles
Mingshi Gao Department of Pathology, Huashan Hospital, Fudan University, Shanghai, China PubMed articles Google scholar articles
Chongbo Zhao Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China PubMed articles Google scholar articles
Jihong Dong Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai, China PubMed articles Google scholar articles
Gongchun Huang Department of Neurology, the First People's Hospital of Pinghu, Pinghu, Zhejiang, China PubMed articles Google scholar articles
Jingli Shan Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong, China PubMed articles Google scholar articles
Chuanzhu Yan Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong, China PubMed articles Google scholar articles
Li Di Department of Neurology, Xuanwu Hospital Capital Medical University, Beijing, China PubMed articles Google scholar articles
Yuwei Da Department of Neurology, Xuanwu Hospital Capital Medical University, Beijing, China PubMed articles Google scholar articles
Wenhua Zhu Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China PubMed articles Google scholar articles
Jianying Xi Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China PubMed articles Google scholar articles
Zhaoxia Wang Department of Neurology, Peking University First Hospital, Beijing, China PubMed articles Google scholar articles

Correspondence to Dr Zhaoxia Wang, Department of Neurology, Peking University First Hospital, 8 Xishiku St, Xicheng District, Beijing, China; drwangzx{at}163.com; Dr Jianying Xi, Department of Neurology, Huashan Hospital，Wulumuqi Zhong Road 12, Shanghai, China; xijianying{at}fudan.edu.cn

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Citation

Gu X, Yu J, Jiao K, et al

Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy

Journal of Medical Genetics 2024;61:340-346.

Publication history

Received April 20, 2023
Accepted October 18, 2023
First published November 3, 2023.

Online issue publication

March 21, 2024

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