The most widespread mtDNA pathogenic variant in Leigh syndrome is at mtDNA, 8993T>G/C, affecting the ATP6 subunit of the ATPase, and is also associated with maternally inherited Leigh syndrome (MILS), as well as neuropathy, ataxia, and retinitis pigmentosa (NARP) [23,24]. Here, MT-ATP6 is linked to Leigh syndrome.