A case of de novo dynamin 2 (DNM2)-related centronuclear myopathy with electrical but not clinical myotonia.

Huang, Xiao; Liu, Xiang-Yi; Chen, Lu; Sun, A-Ping; Zhang, Ying-Shuang; Zheng, Dan-Feng; Zhong, Yan-Feng; Fan, Dong-Sheng

Huang, Xiao; Liu, Xiang-Yi; Chen, Lu; Sun, A-Ping; Zhang, Ying-Shuang; Zheng, Dan-Feng; Zhong, Yan-Feng; Fan, Dong-Sheng.

Afiliação

Huang X; Department of Neurology, Peking University Third Hospital, Beijing 100191, China.
Liu XY; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative diseases, Beijing 100191, China.
Chen L; Department of Neurology, Peking University Third Hospital, Beijing 100191, China.
Sun AP; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative diseases, Beijing 100191, China.
Zhang YS; Department of Neurology, Peking University Third Hospital, Beijing 100191, China.
Zheng DF; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative diseases, Beijing 100191, China.
Zhong YF; Department of Neurology, Peking University Third Hospital, Beijing 100191, China.
Fan DS; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative diseases, Beijing 100191, China.

Chin Med J (Engl) ; 133(24): 3023-3024, 2020 Aug 18.

Article em En | MEDLINE | ID: mdl-32826616

Assuntos

Miopatias Congênitas Estruturais; Miotonia; Dinamina II/genética; Humanos; Músculo Esquelético; Mutação; Miopatias Congênitas Estruturais/diagnóstico; Miopatias Congênitas Estruturais/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias Congênitas Estruturais / Miotonia Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Chin Med J (Engl) Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China

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