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

doi:10.1016/j.jocn.2017.10.084

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

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Feb 2018

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

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OBJECTIVE: To summarize the electrophysiological characteristics of two cases of endplate acetylcholinesterase deficiency (EAD) related congenital myasthenic syndrome (CMS) caused by COLQ mutation and to discuss the possible mechanism of these electrophysiological phenomena. METHODS: Electrophysiological examinations were conducted including nerve conduction studies, routine electromyography (EMG), repetitive...

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

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