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The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants.
Wang, Ning; Han, Xu; Hao, Shengpu; Han, Jingzhe; Zhou, Xiaomeng; Sun, Shuyan; Tang, Jin; Lu, Yanpeng; Wu, Hongran; Ma, Shaojuan; Song, Xueqin; Ji, Guang.
Affiliation
  • Wang N; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.
  • Han X; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China.
  • Hao S; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.
  • Han J; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China.
  • Zhou X; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.
  • Sun S; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China.
  • Tang J; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.
  • Lu Y; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China.
  • Wu H; MyGenosticsInc, Beijing, China.
  • Ma S; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.
  • Song X; The Key Laboratory of Neurology (Hebei Medical University), Ministry of Education, 050000, Shijiazhuang, Hebei, People's Republic of China.
  • Ji G; Department of Neurology, The Second Hospital of Hebei Medical University, 050000, Shijiazhuang, Hebei, People's Republic of China.
BMC Neurol ; 22(1): 398, 2022 Nov 01.
Article in En | MEDLINE | ID: mdl-36319958
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Distal Myopathies / Muscular Dystrophies, Limb-Girdle Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Country/Region as subject: Asia Language: En Journal: BMC Neurol Journal subject: NEUROLOGIA Year: 2022 Document type: Article Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Distal Myopathies / Muscular Dystrophies, Limb-Girdle Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Country/Region as subject: Asia Language: En Journal: BMC Neurol Journal subject: NEUROLOGIA Year: 2022 Document type: Article Country of publication: United kingdom