{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T08:39:31Z","timestamp":1780735171376,"version":"3.54.1"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T00:00:00Z","timestamp":1764288000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T00:00:00Z","timestamp":1764288000000},"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":["Muscle and Nerve"],"published-print":{"date-parts":[[2026,2]]},"abstract":"ABSTRACT<\/jats:title>\n \n Introduction\/Aims<\/jats:title>\n \n Glycosylation defects are a recognized cause of congenital myasthenic syndrome (CMS), affecting the stability and functions of the neuromuscular junction proteins. Mutations in five genes (\n GFPT1<\/jats:italic>\n ,\n DPAGT1<\/jats:italic>\n ,\n GMPPB<\/jats:italic>\n ,\n ALG2<\/jats:italic>\n , and\n ALG14<\/jats:italic>\n ) are currently associated with glycosylation\u2010related CMS. This cohort describes Iranian patients with CMS and variants in these genes.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n A retrospective study was conducted to examine demographic, clinical, genetic, and histological data from Iranian patients with confirmed CMS\u2010glycosylation defects. Patients were identified and recruited through the Neuromuscular Clinics of Tehran University of Medical Sciences. Only patients with complete clinical and genetic data available were included.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Twenty\u2010three genetically confirmed patients with glycosylation\u2010related CMS were enrolled. Genetic analysis revealed the mutations in the\n GFPT1<\/jats:italic>\n ,\n GMPPB<\/jats:italic>\n , and\n ALG2<\/jats:italic>\n genes, with those in\n GFPT1<\/jats:italic>\n and\n GMPPB<\/jats:italic>\n being the most common. The median age of onset and diagnosis was 6 and 16\u2009years, respectively. Common clinical features were limb\u2010girdle muscle weakness with minimal ocular involvement. Consanguinity and a positive family history were common, identified in 21 and 14 patients, respectively. Muscle biopsies revealed tubular aggregates in patients with\n GFPT1<\/jats:italic>\n and\n GMPPB<\/jats:italic>\n variants. In addition, novel genetic variants were identified, and phenotypic variability was observed even within families sharing identical mutations.\n <\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n \n This study identifies novel variants and phenotypic variability in glycosylation\u2010related CMS, with\n GFPT1<\/jats:italic>\n and\n GMPPB<\/jats:italic>\n as the predominant subtypes in Iran. These findings expand the genotypic and phenotypic spectrum and underscore the importance of early genetic testing in high\u2010consanguinity populations to improve diagnosis and management.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mus.70083","type":"journal-article","created":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T09:41:07Z","timestamp":1764322867000},"page":"240-249","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Cohort of Iranian Patients With Congenital Myasthenic Syndrome due to Glycosylation Defects"],"prefix":"10.1002","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1148-3998","authenticated-orcid":false,"given":"Mahtab","family":"Ramezani","sequence":"first","affiliation":[{"name":"Neuromuscular Research Center Tehran University of Medical Sciences Tehran Iran"},{"name":"Neurology Department, Shariati Hospital Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9286-4943","authenticated-orcid":false,"given":"Ali Asghar","family":"Okhovat","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center Tehran University of Medical Sciences Tehran Iran"},{"name":"Neurology Department, Shariati Hospital Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8671-0975","authenticated-orcid":false,"given":"Yalda","family":"Nilipour","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center Tehran University of Medical Sciences Tehran Iran"},{"name":"Pediatric Pathology Research Center, Research Institute for Children's Health Shahid Beheshti University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6386-7961","authenticated-orcid":false,"given":"Aida","family":"Ghasemi","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3373-740X","authenticated-orcid":false,"given":"Bahram Haghi","family":"Ashtiani","sequence":"additional","affiliation":[{"name":"Neurology Department, Firouzgar Hospital Iran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Payam","family":"Sarraf","sequence":"additional","affiliation":[{"name":"Neurology Department, Imam Khomeini Hospital Complex Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8467-4728","authenticated-orcid":false,"given":"Ariana","family":"Kariminejad","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology and Genetics Center Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4763-4310","authenticated-orcid":false,"given":"Shahriar","family":"Nafissi","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center Tehran University of Medical Sciences Tehran Iran"},{"name":"Neurology Department, Shariati Hospital Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,11,28]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.12775\/JEHS.2023.13.02.004"},{"issue":"4","key":"e_1_2_13_3_1","first-page":"179","article-title":"Genetic 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