{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:11:01Z","timestamp":1790835061436,"version":"4.1.0"},"reference-count":48,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T00:00:00Z","timestamp":1766707200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T00:00:00Z","timestamp":1766707200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Congenital myasthenic syndrome (CMS) refers to a rare heterogeneous group of hereditary disorders characterized by fatigue and muscle weakness due to impairment in neuromuscular transmission. A total of 40 genes have been identified in the pathogenesis of CMSs. The study assessed 22 patients (14 females and 8 males) with CMS of childhood onset with their phenotypes and genotypes. Genetic analysis revealed variations in the following eight genes:\n                    <jats:italic>CHRNE<\/jats:italic>\n                    ,\n                    <jats:italic>DOK7<\/jats:italic>\n                    ,\n                    <jats:italic>GFPT1<\/jats:italic>\n                    ,\n                    <jats:italic>COLQ<\/jats:italic>\n                    ,\n                    <jats:italic>SLC25A1<\/jats:italic>\n                    ,\n                    <jats:italic>CHAT<\/jats:italic>\n                    ,\n                    <jats:italic>MUSK<\/jats:italic>\n                    , and\n                    <jats:italic>MYO9A.<\/jats:italic>\n                    Eight novel variations were detected involving\n                    <jats:italic>SLC25A1<\/jats:italic>\n                    ,\n                    <jats:italic>MUSK<\/jats:italic>\n                    ,\n                    <jats:italic>DOK7<\/jats:italic>\n                    ,\n                    <jats:italic>GFPT1<\/jats:italic>\n                    , and\n                    <jats:italic>CHRNE<\/jats:italic>\n                    . The median age was 14\u2009years (range: 0.5\u201367\u2009years). The median age of onset of symptoms was 8 months (range: 0\u201316\u2009years). The longest time after the onset of symptoms was 62\u2009years. The most common initial symptoms were weakness of extremities (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20099) and ptosis (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20098). Respiratory symptoms were present in 11 patients (50%), which showed progression, multiphasic disease course, and amelioration in 45.4%, 18.1%, and 36.3% of patients, respectively. Motor symptoms showed a progressive worsening in 68.1%, stationary course in 13.6%, multiphasic disease course in 13.6%, and amelioration in 4.5% of patients. Thanks to next\u2010generation sequencing, diagnoses of CMS have been increasing over the recent years; so has the number of novel variants.\n                  <\/jats:p>","DOI":"10.1111\/cge.70127","type":"journal-article","created":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T11:26:18Z","timestamp":1766748378000},"page":"889-903","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Congenital Myasthenic Syndrome: Long\u2010Term Outcomes up to 60\u2009Years, Molecular Characterization, and Eight Novel Variants"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2976-7112","authenticated-orcid":false,"given":"Ayfer Ardu\u00e7","family":"Ak\u00e7ay","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics School of Medicine, Ko\u00e7 University  \u0130stanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4528-5930","authenticated-orcid":false,"given":"Gulshan","family":"Yunisova","sequence":"additional","affiliation":[{"name":"Department of Neurology Ko\u00e7 University Hospital  \u0130stanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9545-6657","authenticated-orcid":false,"given":"\u015eahin","family":"Avc\u0131","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Medicine, Ko\u00e7 University  \u0130stanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8653-8543","authenticated-orcid":false,"given":"Ay\u015fe Nur \u00d6zda\u011f","family":"Acarl\u0131","sequence":"additional","affiliation":[{"name":"Department of Neurology School of Medicine, Ko\u00e7 University  \u0130stanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9563-3884","authenticated-orcid":false,"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Medicine, Ko\u00e7 University  \u0130stanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8202-5313","authenticated-orcid":false,"given":"Piraye","family":"Oflazer","sequence":"additional","affiliation":[{"name":"Department of Neurology School of Medicine, Ko\u00e7 University  \u0130stanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,12,26]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.07.400"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2020.03.004"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000736"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1025-5"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2018.01.007"},{"key":"e_1_2_12_7_1","first-page":"565","volume-title":"Handbook of Clinical Neurology","author":"Engel A. 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