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...

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Autors principals: Rodríguez Cruz, P, Palace, J, Beeson, D
Format: Journal article
Idioma:English
Publicat: MDPI 2018