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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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Detalles Bibliográficos
Autores principales: Rodríguez Cruz, Pedro M., Palace, Jacqueline, Beeson, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032286/
https://www.ncbi.nlm.nih.gov/pubmed/29874875
http://dx.doi.org/10.3390/ijms19061677