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Article

A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).

Human mutation - 1 Aug 2008

Herrero-Martín María D, Pineda Mercedes, Briones Paz, López-Gallardo Ester, Carreras Magdalena, Benac Mercedes, Angel Idoate Miguel, Vilaseca María A, Artuch Rafael, López-Pérez Manuel J, Ruiz-Pesini Eduardo, Montoya Julio

Abstract excerpt

A disorder of mitochondrial energy metabolism may be missed in children with a very mild phenotype. Here, we described a patient with a moderate mental retardation and a mild exercise intolerance. This child harboured a mtDNA transition (m.6955G>A) in the subunit I of the cytochrome oxidase (MT-CO1) that fulfils most of the requirements to be pathologic. Despite this subunit is the second longest polypeptide...

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PMID: 18484665
DOI: 10.1002/humu.20800

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