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X-linked myopathy with excessive autophagy due to a mutation in VMA21 gene: the first case in China.
Yang, Jie; Chen, Dingbang; Feng, Li; Yan, Zhicong; Wu, Chao; You, Huajing; Liao, Bing; Wu, Jinlang; Li, Xunhua.
Affiliation
  • Yang J; Department of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, 58 2nd Zhongshan Road, Guangzhou, 510080, People's Republic of China.
  • Chen D; Department of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, 58 2nd Zhongshan Road, Guangzhou, 510080, People's Republic of China.
  • Feng L; Department of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, 58 2nd Zhongshan Road, Guangzhou, 510080, People's Republic of China.
  • Yan Z; Department of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, 58 2nd Zhongshan Road, Guangzhou, 510080, People's Republic of China.
  • Wu C; Department of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, 58 2nd Zhongshan Road, Guangzhou, 510080, People's Republic of China.
  • You H; Department of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, 58 2nd Zhongshan Road, Guangzhou, 510080, People's Republic of China.
  • Liao B; Department of Pathology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China.
  • Wu J; Electron Microscope Laboratory, Zhongshan Medical College, Sun Yat-Sen, University, Guangzhou, China.
  • Li X; Department of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, 58 2nd Zhongshan Road, Guangzhou, 510080, People's Republic of China. lixunh@mail.sysu.edu.cn.
Neurol Sci ; 43(3): 2137-2139, 2022 Mar.
Article in En | MEDLINE | ID: mdl-35015203
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vacuolar Proton-Translocating ATPases / Muscular Diseases Limits: Child / Humans / Male Country/Region as subject: Asia Language: En Journal: Neurol Sci Journal subject: NEUROLOGIA Year: 2022 Document type: Article
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vacuolar Proton-Translocating ATPases / Muscular Diseases Limits: Child / Humans / Male Country/Region as subject: Asia Language: En Journal: Neurol Sci Journal subject: NEUROLOGIA Year: 2022 Document type: Article