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...

Mô tả đầy đủ

Chi tiết về thư mục
Những tác giả chính: Webster, R, Maxwell, S, Spearman, H, Tai, K, Beckstein, O, Sansom, M, Beeson, D
Định dạng: Journal article
Ngôn ngữ:English
Được phát hành: 2012