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 |
|---|---|
| Pages (from-to) | 209-217 |
| Number of pages | 9 |
| Journal | Neurology |
| Volume | 42 |
| Issue number | 1 |
| State | Published - Jan 1 1992 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Neuroscience(all)
Cite this
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. / Tritschler, H. J.; Andreetta, F.; Moraes, Carlos 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.
In: Neurology, Vol. 42, No. 1, 01.01.1992, p. 209-217.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
AU - Tritschler, H. J.
AU - Andreetta, F.
AU - Moraes, Carlos T
AU - Bonilla, E.
AU - Arnaudo, E.
AU - Danon, M. J.
AU - Glass, S.
AU - Zelaya, B. M.
AU - Vamos, E.
AU - Telerman-Toppet, N.
AU - Shanske, S.
AU - Kadenbach, B.
AU - DiMauro, S.
AU - Schon, E. A.
PY - 1992/1/1
Y1 - 1992/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0026541124&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0026541124&partnerID=8YFLogxK
M3 - Article
VL - 42
SP - 209
EP - 217
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 1
ER -