AUTHOR=Gómez-García de la Banda Marta , Simental-Aldaba Emmanuel , Fahmy Nagia , Sternberg Damien , Blondy Patricia , Quijano-Roy Susana , Malfatti Edoardo 

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

JOURNAL=Frontiers in Neurology

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.909715

DOI=10.3389/fneur.2022.909715

ISSN=1664-2295

ABSTRACT=<p>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 <italic>CHRNE</italic>. We report a novel homozygous <italic>CHRNE</italic> pathogenic variant in two Egyptian siblings showing a CMS. Interestingly, they showed different degrees of extraocular and skeletal muscle involvement; both presented only a partial response to cholinesterase inhibitors, and rapidly and substantially ameliorated after the addition of oral β2 adrenergic agonists. Here, we enlarge the genetic spectrum of <italic>CHRNE</italic>-related congenital myasthenic syndromes and highlight the importance of a β2 adrenergic agonists treatment.</p>