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A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.
Yang, Xinzhuang; Zhang, Dingding; Shen, Si; Li, Pidong; Li, Mengjie; Niu, Jingwen; Ma, Dongrui; Xu, Dan; Li, Shuangjie; Guo, Xueyu; Wang, Zhen; Zhao, Yanhuan; Ren, Haitao; Ling, Chao; Wang, Yang; Fan, Yu; Shen, Jianxiong; Zhu, Yicheng; Wang, Depeng; Cui, Liying; Chen, Lin; Shi, Changhe; Dai, Yi.
Afiliación
  • Yang X; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
  • Zhang D; Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, People's Republic of China.
  • Shen S; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
  • Li P; Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, People's Republic of China.
  • Li M; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China.
  • Niu J; GrandOmics Biosciences, Beijing, People's Republic of China.
  • Ma D; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China.
  • Xu D; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
  • Li S; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China.
  • Guo X; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
  • Wang Z; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China.
  • Zhao Y; GrandOmics Biosciences, Beijing, People's Republic of China.
  • Ren H; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
  • Ling C; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
  • Wang Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
  • Fan Y; Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
  • Shen J; GrandOmics Biosciences, Beijing, People's Republic of China.
  • Zhu Y; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China.
  • Wang D; Academy of Medical Sciences of Zhengzhou University, Zhengzhou, Henan, 450000, People's Republic of China.
  • Cui L; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
  • Chen L; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
  • Shi C; GrandOmics Biosciences, Beijing, People's Republic of China.
  • Dai Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, People's Republic of China.
BMC Med Genomics ; 16(1): 253, 2023 10 20.
Article en En | MEDLINE | ID: mdl-37864208
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Distrofias Musculares Límite: Adult / Humans Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Distrofias Musculares Límite: Adult / Humans Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article