Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
HJ Tritschler, F Andreetta, CT Moraes, E Bonilla… - Neurology, 1992 - AAN Enterprises
HJ Tritschler, F Andreetta, CT Moraes, E Bonilla, E Arnaudo, MJ Danon, S Glass, BM Zelaya…
Neurology, 1992•AAN EnterprisesWe 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 …
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 …
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.
American Academy of Neurology