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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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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Rodríguez Cruz, Pedro M., Palace, Jacqueline, Beeson, David
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2018
Assuntos:
Acesso em linha: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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