Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA.
Neurology
; 42(1): 209-17, 1992 Jan.
Article
em En
| MEDLINE
| ID: mdl-1734306
ABSTRACT
We have studied five children with mitochondrial myopathy manifesting within or soon after the first year of life. Muscle biopsies showed ragged-red fibers and decreased respiratory chain activity. All five patients had a severe decrease (2 to 34% of normal) in the amount of muscle mitochondrial DNA (mtDNA). The depletion of mtDNA correlated with absence of mtDNA-encoded translation products and with loss of cytochrome c oxidase enzyme activity in individual muscle fibers. This mitochondrial myopathy of childhood illustrates one phenotypic expression of a novel pathogenetic mechanism in mitochondrial diseases, the specific depletion of mtDNA in affected tissues.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
Mitocôndrias Musculares
/
Doenças Musculares
Tipo de estudo:
Risk_factors_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Neurology
Ano de publicação:
1992
Tipo de documento:
Article