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...

詳細記述

書誌詳細
主要な著者: Rodríguez Cruz, P, Palace, J, Beeson, D
フォーマット: Journal article
言語:English
出版事項: MDPI 2018