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A distinctive clinical feature of presynaptic CMS variants caused by defects of the synthesis of acetylcholine is the association with life-threatening episodes of apnea. One of these variants is caused by mutations in the <jats:italic>SLC5A7<\/jats:italic> gene, which encodes the sodium-dependent HC-3 high-affinity choline transporter 1 (CHT1). To our knowledge there are no published cases of this CMS type in Latin America.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We present two cases of CHT1-CMS. Both patients were males presenting with repeated episodes of apnea, hypotonia, weakness, ptosis, mild ophthalmoparesis, and bulbar deficit. The first case also presented one isolated seizure, while the second case showed global developmental delay. Both cases, exhibited incomplete improvement with treatment with pyridostigmine.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This report emphasizes the broad incidence of CMS with episodic apnea caused by mutations in the <jats:italic>SLC5A7<\/jats:italic> gene and the frequent association of this condition with serious manifestations of central nervous system involvement.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-024-01977-6","type":"journal-article","created":{"date-parts":[[2024,8,12]],"date-time":"2024-08-12T11:02:32Z","timestamp":1723460552000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases"],"prefix":"10.1186","volume":"17","author":[{"given":"Javier A","family":"Muntadas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin R","family":"Hyland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Del Rosario Ortol\u00e1","family":"Mart\u00ednez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime N","family":"Young","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica X","family":"Chong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J","family":"Bamshad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo A.","family":"Maselli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,8,12]]},"reference":[{"issue":"3","key":"1977_CR1","doi-asserted-by":"publisher","first-page":"833","DOI":"10.1111\/ene.15173","volume":"29","author":"EP Estephan","year":"2022","unstructured":"Estephan EP, Zambon AA, Thompson R, Polavarapu K, Jomaa D, T\u00f6pf A, et al. Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis. Eur J Neurol. 2022;29(3):833\u201342.","journal-title":"Eur J Neurol"},{"issue":"4","key":"1977_CR2","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1016\/S1474-4422(14)70201-7","volume":"14","author":"AG Engel","year":"2015","unstructured":"Engel AG, Shen XM, Selcen D, Sine SM. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol. 2015;14(4):420\u201334.","journal-title":"Lancet Neurol"},{"key":"1977_CR3","doi-asserted-by":"publisher","unstructured":"Engel AG, Lambert EH, Gomez MR. A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. Ann Neurol. 1977;1(4):315\u2009\u2013\u200930. https:\/\/doi.org\/10.1002\/ana.410010403. 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Informed consent to participate was obtained and signed by the legal representatives of all the participants of the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of the case reports and images was obtained from all the legal guardians\/parents in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"207"}}