Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

H. J. Tritschler, F. Andreetta, C. T. Moraes, E. Bonilla, E. Arnaudo, M. J. Danon, S. Glass, B. M. Zelaya, E. Vamos, N. Telerman-Toppet, S. Shanske, B. Kadenbach, S. Dimauro, E. A. Schon

Research output: Contribution to journalArticlepeer-review

189 Scopus citations


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 languageEnglish (US)
Pages (from-to)209-217
Number of pages9
Issue number1
StatePublished - Jan 1992
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology


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