A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.

Muscle acetylcholine receptor ion channels mediate neurotransmission by depolarizing the postsynaptic membrane at the neuromuscular junction. Inherited disorders of neuromuscular transmission, termed congenital myasthenic syndromes, are commonly caused by mutations in genes encoding the five subunit...

תיאור מלא

מידע ביבליוגרפי
Main Authors: Webster, R, Maxwell, S, Spearman, H, Tai, K, Beckstein, O, Sansom, M, Beeson, D
פורמט: Journal article
שפה:English
יצא לאור: 2012