Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions

Congenital myasthenic syndromes (CMS) form a heterogeneous group of rare diseases characterized by fatigable muscle weakness. They are genetically-inherited and caused by defective synaptic transmission at the cholinergic neuromuscular junction (NMJ). The number of genes known to cause CMS when muta...

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Detalles Bibliográficos
Autores principales: Nicole, Sophie, Azuma, Yoshiteru, Bauché, Stéphanie, Eymard, Bruno, Lochmüller, Hanns, Slater, Clarke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701762/
https://www.ncbi.nlm.nih.gov/pubmed/29125502
http://dx.doi.org/10.3233/JND-170257

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701762/
https://www.ncbi.nlm.nih.gov/pubmed/29125502
http://dx.doi.org/10.3233/JND-170257

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