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In contrast, a short isoform (GFPT1\u2010S) is generated in the other tissues. GFPT1\u2010L was likely acquired in evolution to suppress the HBP in striated muscles to flow more glucose into the glycolytic pathway. Loss\u2010of\u2010function variants of\n                    <jats:italic>GFPT1<\/jats:italic>\n                    cause limb\u2010girdle congenital myasthenic syndrome (CMS). A total of 146 patients in 115 pedigrees with\n                    <jats:italic>GFPT1<\/jats:italic>\n                    \u2010CMS have been reported with 71 pathogenic variants. The mean age of onset was 8.3\u2009\u00b1\u200910.1\u2009years (range 0 to 69\u2009years). Limb\u2010girdle muscle weakness, tubular aggregates in muscle biopsy, and elevated serum CK were observed in 100%, 66.7%, and 42.5%, respectively. Involvements of palpebral, extraocular, facial, bulbar, and respiratory muscles were rare and were observed in less than one in seven patients. Pyridostigmine, amifampridine, and salbutamol were effective in 95.8%, 76.3%, and 86.4%, respectively. Mechanistic studies show that hypoglycosylation of the acetylcholine receptor \u03b4 subunit is likely to be a key for defective acetylcholine receptor clustering. In mouse models, complete lack of GFPT1 in skeletal muscle developed CMS in 6\u2009weeks of age, whereas lack of GFPT1\u2010L in skeletal muscle required 12\u2009months to develop CMS, which was likely to be accounted for by the expression of a low level of GFPT1\u2010S. In accordance with this notion, null variants were enriched in exon 9 in\n                    <jats:italic>GFPT1<\/jats:italic>\n                    \u2010CMS.\n                  <\/jats:p>","DOI":"10.1002\/mus.70065","type":"journal-article","created":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T04:49:44Z","timestamp":1782967784000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in\n                    <i>GFPT1<\/i>"],"prefix":"10.1002","volume":"74","author":[{"given":"Kinji","family":"Ohno","sequence":"first","affiliation":[{"name":"Division of Neurogenetics, Center for Neurological Diseases and Cancer Nagoya University Graduate School of Medicine  Nagoya Japan"},{"name":"Graudate School of Nutritional Sciences Nagoya University of Arts and Sciences  Nisshin 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