LHON, either with the three primary common mtDNA mutations, but more frequently with rarer mtDNA mutations again affecting the mtDNA-encoded cI subunit genes, may present with a spectrum of clinical manifestations ranging from optic atrophy plus dystonia and basal ganglia bilateral lesions resembling Leigh syndrome to MELAS syndrome [29,30]. Here, NDUFB6 is linked to Leber hereditary optic neuropathy.