Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.

Congenital myasthenic syndromes (CMS) result from the failure to achieve muscle depolarisation due to disorders in the structure and/or function of the neuromuscular synapse. Mutations of the nicotinic acetylcholine receptor (nAChR) form a major subset of CMS. We describe a patient who presented wit...

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Main Authors: Webster, R, Liu, W, Chaouch, A, Lochmüller, H, Beeson, D
格式: Journal article
语言:English
出版: 2014