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A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy.
Qian, Fang-Yuan; Guo, Yu-Dong; Zu, Juan; Zhang, Jin-Hua; Zheng, Yi-Ming; Abdoulaye, Idriss Ali; Pan, Zhao-Hui; Xie, Chun-Ming; Gao, Han-Chao; Zhang, Zhi-Jun.
Afiliação
  • Qian FY; Department of Neurology, Affiliated ZhongDa Hospital, School of Medicine, Research Institution of Neuropsychiatry, Southeast University, Nanjing, Jiangsu, China.
  • Guo YD; Department of Orthopedic, Affiliated ZhongDa Hospital, School of Medicine, Southeast University, Nanjing, Jiangsu, China.
  • Zu J; Department of Neurology, Affiliated ZhongDa Hospital, School of Medicine, Research Institution of Neuropsychiatry, Southeast University, Nanjing, Jiangsu, China.
  • Zhang JH; Department of Neurology, Affiliated ZhongDa Hospital, School of Medicine, Research Institution of Neuropsychiatry, Southeast University, Nanjing, Jiangsu, China.
  • Zheng YM; Department of Neurology, Peking University First Hospital, Beijing, China.
  • Abdoulaye IA; Department of Neurology, Affiliated ZhongDa Hospital, School of Medicine, Research Institution of Neuropsychiatry, Southeast University, Nanjing, Jiangsu, China.
  • Pan ZH; Department of Neurology, Affiliated ZhongDa Hospital, School of Medicine, Research Institution of Neuropsychiatry, Southeast University, Nanjing, Jiangsu, China.
  • Xie CM; Department of Neurology, Affiliated ZhongDa Hospital, School of Medicine, Research Institution of Neuropsychiatry, Southeast University, Nanjing, Jiangsu, China. chmxie@163.com.
  • Gao HC; Department of Nephrology, Shenzhen Longhua District Central Hospital, Guangdong Medical University, Shenzhen, China. hcgao@foxmail.com.
  • Zhang ZJ; Department of Neurology, Affiliated ZhongDa Hospital, School of Medicine, Research Institution of Neuropsychiatry, Southeast University, Nanjing, Jiangsu, China. janemengzhang@vip.163.com.
Acta Neuropathol Commun ; 9(1): 23, 2021 02 08.
Article em En | MEDLINE | ID: mdl-33557929
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Músculo Esquelético / Chaperonas Moleculares / Miopatias Congênitas Estruturais / Miopatias Distais / Proteínas de Choque Térmico HSP40 / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Aged / Animals / Humans / Male Idioma: En Revista: Acta Neuropathol Commun Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Músculo Esquelético / Chaperonas Moleculares / Miopatias Congênitas Estruturais / Miopatias Distais / Proteínas de Choque Térmico HSP40 / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Aged / Animals / Humans / Male Idioma: En Revista: Acta Neuropathol Commun Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China País de publicação: Reino Unido