The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes

Congenital myasthenic syndromes (CMS) are genetic disorders characterised by impaired neuromuscular transmission. This review provides an overview on CMS and highlights recent advances in the field, including novel CMS causative genes and improved therapeutic strategies. CMS due to mutations in SLC5...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Rodríguez Cruz, P, Palace, J, Beeson, D
Формат: Journal article
Хэл сонгох:English
Хэвлэсэн: MDPI 2018