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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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A microdeletion in cytochrome c oxidase ( COX) subunit III associated with COX deficiency and recurrent myoglobinuria.

We have identified a 15-bp microdeletion in a highly conserved region of the mitochondrially encoded gene for cytochrome c oxidase ( COX) subunit III in a patient with severe isolated COX deficiency and recurrent myoglobinuria. The mutant mitochondrial DNA (mtDNA) comprised 92% of the mtDNA in muscle and 0.7% in leukocytes. Immunoblots and immunocytochemistry suggested a lack of assembly or instability of the complex. Microdissected muscle fibres revealed significantly higher portions of mutant mtDNA in COX-negative than in COX-positive fibres. This represents the first case of isolated COX deficiency to be defined at the molecular level.[1]

References

  1. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Keightley, J.A., Hoffbuhr, K.C., Burton, M.D., Salas, V.M., Johnston, W.S., Penn, A.M., Buist, N.R., Kennaway, N.G. Nat. Genet. (1996) [Pubmed]
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