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Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, d'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M. Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 2010;86(4):639-49.\par \par }