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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...
Autores principales: | Rodríguez Cruz, Pedro M., Palace, Jacqueline, Beeson, David |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2018
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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 |
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