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...

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Detalles Bibliográficos
Autores principales: Vanhaesebrouck, An E., Beeson, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2019
Materias:
PERIPHERAL NERVE AND NEURO-MUSCULAR JUNCTION DISEASE: Edited by Mary M. Reilly
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

Internet

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

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