Mechanism hypotheses for the electrophysiological manifestations of two cases of endplate acetylcholinesterase deficiency related congenital myasthenic syndrome.

Ding, Qingyun; Shen, Dongchao; Dai, Yi; Hu, Youfang; Guan, Yuzhou; Liu, Mingsheng; Cui, Liying

Ding, Qingyun; Shen, Dongchao; Dai, Yi; Hu, Youfang; Guan, Yuzhou; Liu, Mingsheng; Cui, Liying.

Afiliação

Ding Q; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China. Electronic address: dingqingyun12@sina.cn.
Shen D; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China. Electronic address: cherry_ef2002@126.com.
Dai Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China. Electronic address: 475852145@qq.com.
Hu Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China. Electronic address: cmu2011@126.com.
Guan Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China. Electronic address: tiantanwangxingao@163.com.
Liu M; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China; Neuroscience Center, Chinese Academy of Medical Sciences, Beijing 100730, China. Electronic address: pumchals@163.com.
Cui L; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China; Neuroscience Center, Chinese Academy of Medical Sciences, Beijing 100730, China. Electronic address: pumchcuily@yahoo.com.

J Clin Neurosci ; 48: 229-232, 2018 Feb.

Article em En | MEDLINE | ID: mdl-29150079

Assuntos

Eletromiografia/métodos; Síndromes Miastênicas Congênitas/fisiopatologia; Condução Nervosa/fisiologia; Acetilcolinesterase/genética; Adolescente; Colágeno/genética; Feminino; Humanos; Masculino; Proteínas Musculares/genética; Mutação; Síndromes Miastênicas Congênitas/complicações; Síndromes Miastênicas Congênitas/genética; Estimulação Elétrica Nervosa Transcutânea

Palavras-chave

COLQ; Congenital myasthenic syndrome; Electromyography; Endplate acetylcholinesterase deficiency; Repetitive compound muscle action potential

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Miastênicas Congênitas / Eletromiografia / Condução Nervosa Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans / Male Idioma: En Revista: J Clin Neurosci Assunto da revista: NEUROLOGIA Ano de publicação: 2018 Tipo de documento: Article

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