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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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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Int J Mol Sci
Asıl Yazarlar: Rodríguez Cruz, Pedro M., Palace, Jacqueline, Beeson, David
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI 2018
Konular:
Online Erişim: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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