Almeida, L.S.Ferreira, M.Nogueira, C.Furtado, F.Evangelista, T.Santorelli, F.M.Vilarinho, L.2013-02-122013-02-122012-06http://hdl.handle.net/10400.18/1305Complex I (CI) deficiency is a defect of OXPHOS caused by mutations in the mitochondrial or nuclear genomes. To date disease-causing mutations have been reported in all mitochondrial-encoded subunits and 22 nuclear genes. In about 50% of the patients no mutations are found, suggesting that undiscovered factors are an important cause of disease. In this study we report a consanguineous family from Southern Portugal with three affected children presenting with CI deficiency and 3-methylglutaconic aciduria type IV.engDoenças GenéticasDoenças MitocondriaisDéfice de Complexo Iconference object