Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

Background The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduriais associated with deficiency of succinate-CoA ligase, caused by mutations in SUCLA2or SUCLG1. We report here 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients.