Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion
Keywords: SUCL; succinyl-CoA ligase; A-SCS; succinyl-CoA synthetase (ADP-forming); SM; skeletal muscle; PDC; pyruvate dehydrogenase complex; KDC; α-ketoglutarate dehydrogenase complex; PEPCK; phosphoenolpyruvate carboxykinase; ETC; electron transport chain; WES; w