{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:18:50Z","timestamp":1747149530177,"version":"3.40.5"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,11,7]],"date-time":"2022-11-07T00:00:00Z","timestamp":1667779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Mutations in protein O\u2010mannosyltransferase 2 (<jats:italic>POMT2<\/jats:italic>) (MIM#607439) have been identified in severe congenital muscular dystrophy such as Walker\u2013Warburg syndrome (WWS) and milder limb\u2010girdle muscular dystrophy type 2N (LGMD2N). The aim of this study is to investigate the genetic causes in patients with LGMD2N.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Three patients diagnosed with mild limb\u2010girdle muscular dystrophy were recruited. The genetically pathogenic variant was identified by clinical exome sequencing, and healthy controls were verified by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Novel compound heterozygous mutations c.800A\u2009&gt;\u2009G and c.1074_1075delinsAT of <jats:italic>POMT2<\/jats:italic> were revealed in one affected individual by clinical exome sequencing. There was no report of these two variants and predicted to be highly damaging to the function of the POMT2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The novel variants extend the spectrum of <jats:italic>POMT2<\/jats:italic> mutations, which promotes the prognostic value of testing for <jats:italic>POMT2<\/jats:italic> mutations in patients with LGMD2N.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jdn.10233","type":"journal-article","created":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T06:04:12Z","timestamp":1665468252000},"page":"23-30","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical exome sequencing identifies novel compound heterozygous mutations of the <i>POMT2<\/i> gene in patients with limb\u2010girdle muscular dystrophy"],"prefix":"10.1002","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8621-9377","authenticated-orcid":false,"given":"Xiangyu","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory, Linyi People's Hospital Shandong University  Linyi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunhai","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Linyi People's Hospital Shandong University  Linyi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Linyi People's Hospital Shandong University  Linyi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liangqian","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, Linyi People's Hospital Shandong University  Linyi 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