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) |
|---|---|
| Pages (from-to) | 209-217 |
| Number of pages | 9 |
| Journal | Neurology |
| Volume | 42 |
| Issue number | 1 |
| State | Published - Jan 1992 |
| Externally published | Yes |
ASJC Scopus subject areas
- Clinical Neurology
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Tritschler, H. J., Andreetta, F., Moraes, C. T., Bonilla, E., Arnaudo, E., Danon, M. J., Glass, S., Zelaya, B. M., Vamos, E., Telerman-Toppet, N., Shanske, S., Kadenbach, B., Dimauro, S., & Schon, E. A. (1992). Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology, 42(1), 209-217.