Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA.
case_series · Level IV
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- Record sourced from PubMed, PMID 1734306.
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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.
Medical subject headings
- DNA, Mitochondrial
- Mitochondria, Muscle
- Muscular Diseases