Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease.
J Neurol Sci
; 192(1-2): 81-4, 2001 Nov 15.
Article
en En
| MEDLINE
| ID: mdl-11701156
ABSTRACT
We studied a 57-year-old female patient with clinical and biochemical evidences of McArdle's disease. Her muscle biopsy also revealed signs of mitochondrial proliferation, scattered RRF, and a deficit in complex I of the respiratory chain. Molecular genetic analysis showed that the patient was heterozygous for the most common mutation at codon 49 in the myophosphorylase gene. Mitochondrial DNA analysis of muscle tissue revealed an additional G-to-A transition at nucleotide position 7444 in the cytochrome c oxidase subunit I (COI) gene.
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Colección:
01-internacional
Asunto principal:
ADN Mitocondrial
/
Enfermedad del Almacenamiento de Glucógeno Tipo V
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Mutación Puntual
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Complejo IV de Transporte de Electrones
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Glucógeno Fosforilasa de Forma Muscular
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Mitocondrias Musculares
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NADH NADPH Oxidorreductasas
Límite:
Female
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Humans
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Middle aged
Idioma:
En
Revista:
J Neurol Sci
Año:
2001
Tipo del documento:
Article
País de afiliación:
España