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

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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Bibliografische gegevens
Hoofdauteurs: Marta Gómez-García de la Banda, Emmanuel Simental-Aldaba, Nagia Fahmy, Damien Sternberg, Patricia Blondy, Susana Quijano-Roy, Edoardo Malfatti
Formaat: Artikel
Taal:English
Gepubliceerd in: Frontiers Media S.A. 2022-06-01
Reeks:Frontiers in Neurology
Onderwerpen:
congenital myasthenic syndrome
CHRNE
neuromuscular junction
β2 adrenergic agonists
salbutamol
Online toegang:https://www.frontiersin.org/articles/10.3389/fneur.2022.909715/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2022.909715/full

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