Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

BACKGROUND: Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of apparent life-threatening events in infancy. The underlying mechanisms for sudden and recurrent episodes of respiratory arrest in these patients are unclear. Whilst CMS-EA is most co...

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Detalles Bibliográficos
Autores principales: McMacken, Grace, Whittaker, Roger G., Evangelista, Teresinha, Abicht, Angela, Dusl, Marina, Lochmüller, Hanns
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760613/
https://www.ncbi.nlm.nih.gov/pubmed/29189923
http://dx.doi.org/10.1007/s00415-017-8689-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760613/
https://www.ncbi.nlm.nih.gov/pubmed/29189923
http://dx.doi.org/10.1007/s00415-017-8689-3

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