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...

Täydet tiedot

Bibliografiset tiedot
Päätekijät: Webster, R, Liu, W, Chaouch, A, Lochmüller, H, Beeson, D
Aineistotyyppi: Journal article
Kieli:English
Julkaistu: 2014