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Journal of Inherited Metabolic Disease

, Volume 19, Issue 2, pp 149–152 | Cite as

Benign mitochondrial encephalomyopathy in a patient with complex I deficiency

  • J. M. F. Trijbels
  • W. Ruitenbeek
  • R. C. A. Sengers
  • A. J. M. Janssen
  • B. A. van Oost
Short Communication

Keywords

Public Health Internal Medicine Metabolic Disease Mitochondrial Encephalomyopathy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Arpa J, Campos Y, Guttierrez-Molina M, et al (1994) Benign mitochondrial myopathy with decreased succinate cytochromec reductase activity.Acta Neurol Scand 90: 281–284.Google Scholar
  2. DiMauro S, Nicholson JF, Hays A, et al (1983) Benign infantile mitochondrial myopathy due to reversible cytochromec oxidase deficiency.Ann Neurol 14: 226–234.Google Scholar
  3. Fischer JC, Ruitenbeek W, Gabreëls FJM, et al (1986) Mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.Eur J Pediatr 144: 441–444.Google Scholar
  4. Salo MK, Rapola J, Somer H, et al (1992) Reversible mitochondrial myopathy with cytochromec oxidase deficiency.Arch Dis Child 67: 1033–1035.Google Scholar
  5. Servidei S, Bertini E, Dionisi-Vici, et al (1988) Benign infantile mitochondrial myopathy due to reversible cytochromec oxidase deficiency: a third case.Clin Neuropathol 7: 209–210.Google Scholar
  6. Sperl W, Ruitenbeek W, Kerkhof CMC, et al (1990) Deficiency ofα andβ subunits of pyruvate dehydrogenase complex in a patient with lactic acidosis and unexpected sudden death.Eur J Pediatr 149: 487–492.Google Scholar
  7. Taylor RW, Birch-Machin MA, Bartlett K, Turnbull DM (1993) Succinate-cytochromec reductase: assessment of its value in the investigation of defects of the respiratory chain.Biochim Biophys Acta 1181: 261–265.Google Scholar
  8. Zeviani M, Petersen P, Servidei S, Bonilla E, DiMauro S (1987) Benign reversible muscle cytochromec oxidase deficiency — a second case.Neurology 37: 64–67.Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1996

Authors and Affiliations

  • J. M. F. Trijbels
    • 2
  • W. Ruitenbeek
    • 2
  • R. C. A. Sengers
    • 2
  • A. J. M. Janssen
    • 2
  • B. A. van Oost
    • 1
  1. 1.Department of Human GeneticsUniversity Hospital NijmegenThe Netherlands
  2. 2.Department of PediatricsUniversity Hospital NijmegenHB NijmegenThe Netherlands

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