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Mitochondrial DNA variation databases | Genome annotation

Mutations in the human mitochondrial genome are known to cause an array of diverse disorders, most of which are maternally inherited, and all of which are associated with defects in oxidative energy metabolism. It is now emerging that somatic mutations in mitochondrial DNA (mtDNA) are also linked to other complex traits, including neurodegenerative diseases, ageing and cancer.

Source text:
(Schon et al., 2012) Human mitochondrial DNA: roles of inherited and somatic mutations. Nat Rev Genet.

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