Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene.
Ann Neurol
; 50(3): 409-13, 2001 Sep.
Article
en En
| MEDLINE
| ID: mdl-11558799
We report the first nonsense mutation (G7896A) in the mtDNA gene for subunit II of cytochrome c oxidase (COX) in a patient with early-onset multisystem disease and COX deficiency in muscle. The mutation was heteroplasmic in muscle, blood, and fibroblasts from the patient and abundantly present in COX-deficient fibers, but less abundant in COX-positive fibers; it was not found in blood samples from the patient's asymptomatic maternal relatives. Immunoblot analysis showed a reduced concentration of both COX II and COX I polypeptides, suggesting impaired assembly of COX holoenzyme.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
ADN Mitocondrial
/
Miopatías Mitocondriales
/
Complejo IV de Transporte de Electrones
/
Codón sin Sentido
Límite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Ann Neurol
Año:
2001
Tipo del documento:
Article
País de afiliación:
España
Pais de publicación:
Estados Unidos