KARS1 and Dystonia: The authors analyzed by exome sequencing a series of 102 patients with clinical and biochemical findings suggestive for mitochondrial disorders and identified compound heterozygous KARS mutations (p.Thr587Met; p.Pro228Leu) in a patient affected by psychomotor delay, hearing loss, ophthalmoplegia, dystonia and elevated CSF lactate level (Pt 15/Fam.