Mitochondrial myopathies

E. A. Schon, H. J. Tritschler, Carlos T Moraes, E. Arnaudo, S. Dimauro, A. F. Miranda, E. Bonilla

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

The mitochondrial myopathies are a diverse group of disorders characterized by defects in mitochondrial function. In addition to the recent identification of mutations in mitochondrial DNA (mtDNA) associated with both maternally inherited and sporadic mitochondrial encephalomyopathies, new classes of mitochondrial diseases have now been described. These result from apparent defects in nuclear genes or even from environmental effects on mitochondrial function. In this latter group, we have made progress in three areas: 1) we have developed a diagnostic test that can distinguish, in the critical first few weeks of life, the fatal and reversible forms of infantile myopathy with cytochrome c oxidase deficiency; 2) we have identified a new class of mitochondrial disease caused by tissue-specific, but variable, depletion of mtDNA; and 3) we have found that azidothimidine-induced myopathy in AIDS patients is also characterized by depletion of mtDNA in muscle.

Original languageEnglish
Pages (from-to)23-27
Number of pages5
JournalInternational Pediatrics
Volume7
Issue number1
StatePublished - Jan 1 1992
Externally publishedYes

Fingerprint

Mitochondrial Myopathies
Mitochondrial DNA
Mitochondrial Diseases
Muscular Diseases
Cytochrome-c Oxidase Deficiency
Mitochondrial Encephalomyopathies
Routine Diagnostic Tests
Acquired Immunodeficiency Syndrome
Muscles
Mutation
Genes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Schon, E. A., Tritschler, H. J., Moraes, C. T., Arnaudo, E., Dimauro, S., Miranda, A. F., & Bonilla, E. (1992). Mitochondrial myopathies. International Pediatrics, 7(1), 23-27.

Mitochondrial myopathies. / Schon, E. A.; Tritschler, H. J.; Moraes, Carlos T; Arnaudo, E.; Dimauro, S.; Miranda, A. F.; Bonilla, E.

In: International Pediatrics, Vol. 7, No. 1, 01.01.1992, p. 23-27.

Research output: Contribution to journalArticle

Schon, EA, Tritschler, HJ, Moraes, CT, Arnaudo, E, Dimauro, S, Miranda, AF & Bonilla, E 1992, 'Mitochondrial myopathies', International Pediatrics, vol. 7, no. 1, pp. 23-27.
Schon EA, Tritschler HJ, Moraes CT, Arnaudo E, Dimauro S, Miranda AF et al. Mitochondrial myopathies. International Pediatrics. 1992 Jan 1;7(1):23-27.
Schon, E. A. ; Tritschler, H. J. ; Moraes, Carlos T ; Arnaudo, E. ; Dimauro, S. ; Miranda, A. F. ; Bonilla, E. / Mitochondrial myopathies. In: International Pediatrics. 1992 ; Vol. 7, No. 1. pp. 23-27.
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