{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T04:54:34Z","timestamp":1791003274812,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:00Z","timestamp":1790899200000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"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":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2026,10]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n \n MTM1<\/jats:italic>\n \u2010related X\u2010linked myotubular myopathy (XLMTM) typically affects males; however, symptomatic female carriers may occur.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n We evaluated a 24\u2010year\u2010old woman with infantile hypotonia followed by slowly progressive, asymmetric proximal weakness with facial and ocular involvement. Clinical assessment, pulmonary function testing, electromyography, lower\u2010limb muscle MRI, and muscle biopsy were performed. Next\u2010generation sequencing and parental segregation analysis were conducted.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The patient developed progressive functional decline leading to wheelchair dependence. Investigations showed moderate\u2010to\u2010severe restrictive ventilatory impairment, a myopathic pattern on electromyography, and extensive fatty replacement on muscle MRI. Muscle biopsy demonstrated histopathological features consistent with centronuclear myopathy. Genetic testing identified a heterozygous\n MTM1<\/jats:italic>\n insertion, c.1266_1267insATGGTGATAAAAACCATTCA, predicted to cause a frameshift (p.Gly423MetfsTer48). The variant was absent in both parents, supporting a de novo event. To our knowledge, this\n MTM1<\/jats:italic>\n variant has not been previously reported.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n This case expands the\n MTM1<\/jats:italic>\n variant spectrum and highlights that de novo\n MTM1<\/jats:italic>\n frameshift variants can underlie clinically significant XLMTM manifestations in females, underscoring the value of genetic testing in symptomatic women with centronuclear myopathy features.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mgg3.70318","type":"journal-article","created":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T04:44:17Z","timestamp":1791002657000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel De Novo\n \n MTM1<\/i>\n <\/scp>\n Insertion Frameshift Variant Causes X\u2010Linked Myotubular Myopathy in a Chinese Female"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-6503-519X","authenticated-orcid":false,"given":"Lijun","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Center for Rare Diseases The Second Affiliated Hospital, Zhejiang University School of Medicine Hangzhou Zhejiang China"},{"name":"Department of Nursing The Second Affiliated Hospital, Zhejiang University School of Medicine Hangzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingxiao","family":"Bao","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Center for Rare Diseases The Second Affiliated Hospital, Zhejiang University School of Medicine Hangzhou Zhejiang China"},{"name":"Department of Nursing The Second Affiliated Hospital, Zhejiang University School of Medicine Hangzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4047-5516","authenticated-orcid":false,"given":"Gonglu","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Center for Rare Diseases The Second Affiliated Hospital, Zhejiang University School of Medicine Hangzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,2]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0900705106"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007319"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010008\u20100472\u20101"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010017\u20101748\u20100"},{"issue":"2","key":"e_1_2_13_6_1","first-page":"169","article-title":"Unilateral Presentation of X\u2010Linked Myotubular Myopathy (XLMTM) in Two Out of Three Female Carriers in a Family With no Affected Male","volume":"164","author":"Drouet A.","year":"2008","journal-title":"Revue 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