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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
Publicado en:Int J Mol Sci
Main Authors: Rodríguez Cruz, Pedro M., Palace, Jacqueline, Beeson, David
Formato: Artigo
Idioma:Inglês
Publicado: MDPI 2018
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6032286/
https://ncbi.nlm.nih.gov/pubmed/29874875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms19061677
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