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

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

Fondazione IRCCS Istituto Neurologico "C. Besta"

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

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 decreasedrespiratory 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 childhoodillustrates 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
Publication status	Published - 1992

ASJC Scopus subject areas

Arts and Humanities (miscellaneous)
Clinical Neurology
Neuroscience(all)

Cite this

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title = "Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA",

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 decreasedrespiratory 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 childhoodillustrates one phenotypic expression of a novel pathogenetic mechanism in mitochondrial diseases the specific depletion of mtDNA in affected tissues.",

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

year = "1992",

language = "English",

volume = "42",

pages = "209--217",

journal = "Neurology",

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T1 - Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

AU - Tritschler, H. J.

AU - Andreetta, F.

AU - Moraes, C. 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

Y1 - 1992

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 decreasedrespiratory 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 childhoodillustrates 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 decreasedrespiratory 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 childhoodillustrates one phenotypic expression of a novel pathogenetic mechanism in mitochondrial diseases the specific depletion of mtDNA in affected tissues.

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AN - SCOPUS:0026541124

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EP - 217

JO - Neurology

JF - Neurology

SN - 0028-3878

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Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

Abstract

ASJC Scopus subject areas

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