Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids

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Oxford University Press

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Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma

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Mitochondrial Complex I Deficiency in Humans

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Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

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Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis

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