Furthermore, maternally transmitted CV deficiency can be caused by mutations in the two mtDNA genes MTATP6 or MTATP8. Heteroplasmic missense mutations in MTATP6 [125,126] are associated with adult-onset NARP (neuropathy, ataxia, and retinitis pigmentosa) or maternally inherited LS (MILS). The gene discussed is MT-ATP8; the disease is cerebellar ataxia.