Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction

{"title":"Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction","authors":"Kinsley Belle , Alexander Kreymerman , Jill L. Young , Nirmal Vadgama , Marco H. Ji , Sandeep Randhawa , Juan Caicedo , Megan Wong , Stephanie P. Muscat , Casey A. Gifford , Richard T. Lee , Jamal Nasir , Gregory M. Enns , Ioannis Karakikes , Andrew M. Schaefer , Robert W. Taylor , Mark Mercola , Dwight Koeberl , Edward H. Wood","doi":"10.1016/j.ymgme.2025.109049","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 3","pages":"Article 109049"},"PeriodicalIF":3.7000,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular genetics and metabolism","FirstCategoryId":"99","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S109671922500040X","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}