A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance.
Neurology
; 50(6): 1875-8, 1998 Jun.
Article
en En
| MEDLINE
| ID: mdl-9633749
ABSTRACT
A 30-year-old woman with a novel heteroplasmic U4409C mtDNA mutation in the tRNA(Met) gene presented with growth retardation, muscle weakness, severe exercise intolerance, and lactic acidosis. Muscle biopsy showed unusually severe dystrophic features. The mutation was not present in maternal relatives or 25 healthy subjects. Single-fiber PCR-RFLP analysis of mtDNA showed higher proportion of the mutation in COX-negative than in COX-positive muscle fibers.
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Banco de datos:
MEDLINE
Asunto principal:
ARN
/
ARN de Transferencia de Metionina
/
Tolerancia al Ejercicio
/
Distrofias Musculares
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Neurology
Año:
1998
Tipo del documento:
Article
País de afiliación:
Dinamarca