MT-ATP6–related mitochondrial disease has been associated with various phenotypes, including NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome, Leigh syndrome (LS), Charcot–Marie–Tooth (CMT) disease, spinocerebellar ataxia (SCA), encephalopathy, peripheral neuropathy, proximal myopathy, cardiomyopathy, dystonia. Here, MT-ATP6 is linked to mitochondrial disease.