Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings

Congenital myasthenic syndromes (CMS) are inherited disorders that lead to abnormal neuromuscular transmission. Post-synaptic mutations are the main cause of CMS, particularly mutations in CHRNE. We report a novel homozygous CHRNE pathogenic variant in two Egyptian siblings showing a CMS. Interestin...

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Detalles Bibliográficos
Autores principales: Gómez-García de la Banda, Marta, Simental-Aldaba, Emmanuel, Fahmy, Nagia, Sternberg, Damien, Blondy, Patricia, Quijano-Roy, Susana, Malfatti, Edoardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9201482/
https://www.ncbi.nlm.nih.gov/pubmed/35720108
http://dx.doi.org/10.3389/fneur.2022.909715

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9201482/
https://www.ncbi.nlm.nih.gov/pubmed/35720108
http://dx.doi.org/10.3389/fneur.2022.909715

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