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Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.
Gu, Xinyu; Yu, Jiaxi; Jiao, Kexin; Deng, Jianwen; Xia, Xingyu; Qiao, Kai; Yue, Dongyue; Gao, Mingshi; Zhao, Chongbo; Dong, Jihong; Huang, Gongchun; Shan, Jingli; Yan, Chuanzhu; Di, Li; Da, Yuwei; Zhu, Wenhua; Xi, Jianying; Wang, Zhaoxia.
Affiliation
  • Gu X; Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
  • Yu J; Department of Neurology, Peking University First Hospital, Beijing, China.
  • Jiao K; Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
  • Deng J; Department of Neurology, Peking University First Hospital, Beijing, China.
  • Xia X; Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
  • Qiao K; Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
  • Yue D; Department of Neurology, Jing'an District Center Hospital of Shanghai, Shanghai, China.
  • Gao M; Department of Pathology, Huashan Hospital, Fudan University, Shanghai, China.
  • Zhao C; Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
  • Dong J; Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai, China.
  • Huang G; Department of Neurology, the First People's Hospital of Pinghu, Pinghu, Zhejiang, China.
  • Shan J; Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong, China.
  • Yan C; Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong, China.
  • Di L; Department of Neurology, Xuanwu Hospital Capital Medical University, Beijing, China.
  • Da Y; Department of Neurology, Xuanwu Hospital Capital Medical University, Beijing, China.
  • Zhu W; Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China.
  • Xi J; Department of Neurology, Huashan Rare Disease Center, National Center for Neurological Disorders, Huashan Hospital, Fudan University, Shanghai, China drwangzx@163.com xijianying@fudan.edu.cn.
  • Wang Z; Department of Neurology, Peking University First Hospital, Beijing, China drwangzx@163.com xijianying@fudan.edu.cn.
J Med Genet ; 61(4): 340-346, 2024 Mar 21.
Article in En | MEDLINE | ID: mdl-37923380
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Dystrophies Limits: Adult / Humans Language: En Journal: J Med Genet Year: 2024 Type: Article Affiliation country: China
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Dystrophies Limits: Adult / Humans Language: En Journal: J Med Genet Year: 2024 Type: Article Affiliation country: China