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

doi:10.1212/wnl.42.1.209

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 journal › Article › peer-review

180 Scopus citations

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
DOIs	https://doi.org/10.1212/wnl.42.1.209
State	Published - Jan 1992
Externally published	Yes

ASJC Scopus subject areas

Clinical Neurology

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Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. / 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.

In: Neurology, Vol. 42, No. 1, 01.1992, p. 209-217.

Research output: Contribution to journal › Article › peer-review

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AU - Moraes, C. T.

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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.

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