Barth syndrome, Friedreich ataxia, NDUFS4, NDUFS3, and SURF1-related Leigh syndrome, ethylmalonic encephalomyopathy, three mitochondrial DNA depletion disorders (mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), MPV17 deficiency, and TK2 deficiency), Leber hereditary optic neuropathy and SLC25A46-related neuropathy. Here, NDUFS3 is linked to mitochondrial neurogastrointestinal encephalomyopathy.