Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction
基因分析和多模态成像证实了线粒体变异 m.12148 T > C 的致病性，导致多系统功能障碍。
期刊:Molecular Genetics and Metabolism
影响因子:3.7
doi:10.1016/j.ymgme.2025.109049
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
