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

189 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

Access to Document

10.1212/wnl.42.1.209

Cite this

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

@article{6cd0a85b712f4c13bf46635997ec12b5,

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 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.",

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",

month = jan,

doi = "10.1212/wnl.42.1.209",

language = "English (US)",

volume = "42",

pages = "209--217",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "1",

}

TY - JOUR

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 - 1992/1

Y1 - 1992/1

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

U2 - 10.1212/wnl.42.1.209

DO - 10.1212/wnl.42.1.209

M3 - Article

C2 - 1734306

AN - SCOPUS:0026541124

VL - 42

SP - 209

EP - 217

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 1

ER -

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this