A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).
Hum Mutat
; 29(8): E112-22, 2008 Aug.
Article
em En
| MEDLINE
| ID: mdl-18484665
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
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Complexo IV da Cadeia de Transporte de Elétrons
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Mutação
Limite:
Adolescent
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Female
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Humans
Idioma:
En
Revista:
Hum Mutat
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2008
Tipo de documento:
Article