Figure 1From: Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemiaRC complex deficiency is more severe in muscle cells. Immunoblot of RC complex and YARS2 levels in YARS2 patient fibroblasts and MyoD-forced myotubes (A). Cā=ācontrol, P2ā=ā[p.Phe52Leu];[p.Phe52Leu] YARS2, P6ā=ā[p.Gly191Asp];[p.Arg360X] YARS2. Complex IV activity was measured relative to total protein (B) and citrate synthase activity (C) in control (C) and patients (P2 & P6) fibroblasts (Fib) and MyoD-forced myotubes (Myo). Experiments were performed at least twice, in triplicate each time. Control fibroblasts were normalised to 100%. Values are the meanāĀ±āSD.Back to article page