title: A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).
abstract: 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 encoded in the mtDNA, only one other missense mutation associated with a myopathy has been described. This suggests that we are missing other phenotypes and that the mitochondrial pathology field is broader that previously thought.
authors.affiliation: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, 50013-Zaragoza.
authors.forename: María D
authors.initials: MD
authors.lastname: Herrero-Martín
authors.forename: Mercedes
authors.initials: M
authors.lastname: Pineda
authors.forename: Paz
authors.initials: P
authors.lastname: Briones
authors.forename: Ester
authors.initials: E
authors.lastname: López-Gallardo
authors.forename: Magdalena
authors.initials: M
authors.lastname: Carreras
authors.forename: Mercedes
authors.initials: M
authors.lastname: Benac
authors.forename: Miguel
authors.initials: M
authors.lastname: Angel Idoate
authors.forename: María A
authors.initials: MA
authors.lastname: Vilaseca
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.forename: Manuel J
authors.initials: MJ
authors.lastname: López-Pérez
authors.forename: Eduardo
authors.initials: E
authors.lastname: Ruiz-Pesini
authors.forename: Julio
authors.initials: J
authors.lastname: Montoya
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics*; D015444:Exercise; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D009132:Muscles / Q000473:pathology; D009154:Mutation; D010641:Phenotype
chemical_list: D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV