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.
Original language | English (US) |
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Pages (from-to) | 209-217 |
Number of pages | 9 |
Journal | Neurology |
Volume | 42 |
Issue number | 1 |
DOIs | |
State | Published - Jan 1992 |
Externally published | Yes |
ASJC Scopus subject areas
- Clinical Neurology