{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T00:05:34Z","timestamp":1780099534398,"version":"3.54.0"},"reference-count":25,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,6,2]],"date-time":"2022-06-02T00:00:00Z","timestamp":1654128000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats: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 <jats:italic>CHRNE<\/jats:italic>. We report a novel homozygous <jats:italic>CHRNE<\/jats: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 \u03b22 adrenergic agonists. Here, we enlarge the genetic spectrum of <jats:italic>CHRNE<\/jats:italic>-related congenital myasthenic syndromes and highlight the importance of a \u03b22 adrenergic agonists treatment.<\/jats:p>","DOI":"10.3389\/fneur.2022.909715","type":"journal-article","created":{"date-parts":[[2022,6,2]],"date-time":"2022-06-02T10:36:55Z","timestamp":1654166215000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings"],"prefix":"10.3389","volume":"13","author":[{"given":"Marta","family":"G\u00f3mez-Garc\u00eda de la Banda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Simental-Aldaba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nagia","family":"Fahmy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Sternberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Blondy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Quijano-Roy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,6,2]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1016\/j.nmd.2011.10.009","article-title":"Current status of the congenital myasthenic syndromes","volume":"22","author":"Engel","year":"2012","journal-title":"Neuromuscul Disord."},{"key":"B2","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1097\/WCO.0b013e328364dc0f","article-title":"Congenital myasthenic syndromes: an update","volume":"26","author":"Hanta\u00ef","year":"2013","journal-title":"Curr Opin Neurol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1967","DOI":"10.1212\/01.wnl.0000336921.51639.0b","article-title":"The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa","volume":"71","author":"Richard","year":"2008","journal-title":"Neurology"},{"key":"B4","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1007\/s11910-011-0234-7","article-title":"Congenital myasthenic syndromes in 2012","volume":"12","author":"Engel","year":"2012","journal-title":"Curr Neurol Neurosci Rep."},{"key":"B5","doi-asserted-by":"publisher","first-page":"1474","DOI":"10.1002\/humu.22130","article-title":"Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients","volume":"33","author":"Abicht","year":"2012","journal-title":"Hum Mutat."},{"key":"B6","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1097\/WCO.0000000000000134","article-title":"Congenital myasthenic syndromes and the neuromuscular junction","volume":"27","author":"Rodr\u00edguez Cruz","year":"2014","journal-title":"Curr Opin Neurol October."},{"key":"B7","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1016\/B978-0-444-64076-5.00037-5","article-title":"Genetic basis and phenotypic features of congenital myasthenic syndromes","volume":"148","author":"Engel","year":"2018","journal-title":"Handb Clin Neurol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1186\/s13023-019-1025-5","article-title":"Congenital myasthenic syndromes","volume":"14","author":"Finsterer","year":"2019","journal-title":"Orphanet J Rare Dis."},{"key":"B9","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1097\/WCO.0000000000000736","article-title":"The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies","volume":"32","author":"Vanhaesebrouck","year":"2019","journal-title":"Curr Opin Neurol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"1719","DOI":"10.1007\/s00415-009-5190-7","article-title":"AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands","volume":"256","author":"Faber","year":"2009","journal-title":"J Neurol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1016\/j.nmd.2016.08.005","article-title":"Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. 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