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The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies
Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins whose function is essential for the integrity of neuromuscular transmission. This review updates the reader on the expanding phenotypic spectrum and suggested improve...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735524/ https://www.ncbi.nlm.nih.gov/pubmed/31361628 http://dx.doi.org/10.1097/WCO.0000000000000736 |