Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion
两个兄弟姐妹均存在琥珀酰辅酶 A 合成酶 (SUCLA2) 缺乏症，且骨骼肌中其他线粒体氧化酶活性受损，但线粒体 DNA 未缺失
期刊:Molecular Genetics and Metabolism
影响因子:3.7
doi:10.1016/j.ymgme.2016.11.005
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
