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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Principais autores:	Marta Gómez-García de la Banda, Emmanuel Simental-Aldaba, Nagia Fahmy, Damien Sternberg, Patricia Blondy, Susana Quijano-Roy, Edoardo Malfatti
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2022-06-01
coleção:	Frontiers in Neurology
Assuntos:	congenital myasthenic syndrome CHRNE neuromuscular junction β2 adrenergic agonists salbutamol
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fneur.2022.909715/full
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