Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.
Am J Hum Genet
; 82(6): 1281-9, 2008 Jun.
Article
en En
| MEDLINE
| ID: mdl-18499082
Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects in humans, has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that are not part in but promote the biogenesis of COX. Mutations of nucleus-encoded structural subunits were sought for but never found in COX-defective patients, leading to the conjecture that they may be incompatible with extra-uterine survival. We report a disease-associated mutation in one such subunit, COX6B1. Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Mutación Puntual
/
Complejo IV de Transporte de Electrones
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Encefalopatías Metabólicas Innatas
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Deficiencia de Citocromo-c Oxidasa
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Am J Hum Genet
Año:
2008
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Estados Unidos