Mutation of PUS1 is linked to mitochondrial myopathy with lactic acidosis and sideroblastic anaemia (MLASA), an oxidative phosphorylation disease in humans.Pus1-KO mice show reduced exercise capacity at 14 weeks of age, accompanied by dysregulated muscle metabolism, reduced mitochondrial content and impaired oxidative capacity[155]. Here, PUS1 is linked to Mitochondrial myopathy.