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Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.
Fan, Yanbin; Tan, Dandan; Song, Danyu; Zhang, Xu; Chang, Xingzhi; Wang, Zhaoxia; Zhang, Cheng; Chan, Sophelia Hoi-Shan; Wu, Qixi; Wu, Liwen; Wang, Shuang; Yan, Hui; Ge, Lin; Yang, Haipo; Mao, Bing; Bönnemann, Carsten; Liu, Jingying; Wang, Suxia; Yuan, Yun; Wu, Xiru; Zhang, Hong; Xiong, Hui.
Affiliation
  • Fan Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Tan D; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Song D; Department of Neurology, Jiujiang University Clinical Medical College, Jiujiang University Hospital, Jiujiang, Jiangxi, China.
  • Zhang X; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Chang X; Center of Ultrastructural Pathology, Lab of Electron Microscopy, Peking University First Hospital, Beijing, China.
  • Wang Z; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Zhang C; Department of Neurology, Peking University First Hospital, Beijing, China.
  • Chan SH; Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China.
  • Wu Q; Department of Pediatrics & Adolescent Medicine, The University of Hong Kong Queen Mary Hospital, Hong Kong, China.
  • Wu L; School of Life Sciences, Peking University, Beijing, China.
  • Wang S; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Yan H; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Ge L; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Yang H; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Mao B; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Bönnemann C; Department of Neurology, Wuhan Children's Hospital, Wuhan, Hubei, China.
  • Liu J; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland, USA.
  • Wang S; Institute of Cardiovascular Sciences and Key Laboratory of Molecular Cardiovascular Sciences, Peking University Health Science Centre, Beijing, China.
  • Yuan Y; Center of Ultrastructural Pathology, Lab of Electron Microscopy, Peking University First Hospital, Beijing, China.
  • Wu X; Department of Neurology, Peking University First Hospital, Beijing, China.
  • Zhang H; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Xiong H; Institute of Cardiovascular Sciences and Key Laboratory of Molecular Cardiovascular Sciences, Peking University Health Science Centre, Beijing, China xh_bjbj@163.com zhanghong@bjmu.edu.cn.
J Med Genet ; 58(5): 326-333, 2021 05.
Article de En | MEDLINE | ID: mdl-32571898

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Lamine A / Laminopathies / Dystrophies musculaires Type d'étude: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limites: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Langue: En Journal: J Med Genet Année: 2021 Type de document: Article Pays d'affiliation: Chine Pays de publication: Royaume-Uni

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Lamine A / Laminopathies / Dystrophies musculaires Type d'étude: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limites: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Langue: En Journal: J Med Genet Année: 2021 Type de document: Article Pays d'affiliation: Chine Pays de publication: Royaume-Uni