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Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients

BACKGROUND: Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases involving neuromuscular transmission. The classification of these syndromes is based on the localization of the defect (pre-synaptic, post-synaptic, and neuromuscular junction) and on the molecular analysis. AIM:...

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Detalles Bibliográficos
Autores principales: Pavone, Piero, Polizzi, Agata, Longo, Maria Roberta, Romano, Katia, Vecchio, Michele, Praticò, Andrea D., Falsaperla, Raffaele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3680889/
https://www.ncbi.nlm.nih.gov/pubmed/23772238
http://dx.doi.org/10.4103/1817-1745.111416