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c.3G>A mutation in the CRYAB gene that causes fatal infantile hypertonic myofibrillar myopathy in the Chinese population.
Lu, Xin-Guo; Yu, Uet; Han, Chun-Xi; Mai, Jia-Hui; Liao, Jian-Xiang; Hou, Yan-Qi.
Affiliation
  • Lu XG; Department of Neuromuscular Research Lab, Shenzhen Children's Hospital, 518038 Shenzhen, P. R. China.
  • Yu U; Department of Neurology, Shenzhen Children's Hospital, 518038 Shenzhen, P. R. China.
  • Han CX; Department of Neurology, Shenzhen Children's Hospital, 518038 Shenzhen, P. R. China.
  • Mai JH; Department of Neuromuscular Research Lab, Shenzhen Children's Hospital, 518038 Shenzhen, P. R. China.
  • Liao JX; Department of Neurology, Shenzhen Children's Hospital, 518038 Shenzhen, P. R. China.
  • Hou YQ; Department of Neurology, Shenzhen Children's Hospital, 518038 Shenzhen, P. R. China.
J Integr Neurosci ; 20(1): 143-151, 2021 Mar 30.
Article in En | MEDLINE | ID: mdl-33834702
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscle, Skeletal / Myopathies, Structural, Congenital / Alpha-Crystallin B Chain Type of study: Etiology_studies Limits: Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: J Integr Neurosci Journal subject: NEUROLOGIA Year: 2021 Document type: Article Country of publication: Singapur
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscle, Skeletal / Myopathies, Structural, Congenital / Alpha-Crystallin B Chain Type of study: Etiology_studies Limits: Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: J Integr Neurosci Journal subject: NEUROLOGIA Year: 2021 Document type: Article Country of publication: Singapur