Abstract
Objective: The m.8993T>G mutation in the gene MT-ATP6 (MIM:516060) which encodes subunit six of complex V (adenosine triphosphate synthase) of the mitochondrial respiratory chain is one of the more common disease associated mutations in mitochondrial DNA (mtDNA). The mutation is heteroplasmic, occurring together with wild-type mtDNA in affected individuals, and is associated with two different clinical phenotypes: NARP (neuropathy, ataxia, and retinitis pigmentosa) or MILS (maternally inherited Leigh syndrome), with the latter usually associated with a high mutation load.
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