Chronic progressive external ophthalmoplegia with NADH-CoQ reductase deficiency: report of a case

Zhonghua Yi Xue Za Zhi (Taipei). 1992 Jul;50(1):77-82.

Abstract

A thirty-two year old female had chronic progressive external ophthalmoplegia (CPEO), exertional fatigue, dysarthria, dysphagia, and bilateral hearing impairment. Histochemical stains, obtained from the right vastus lateralis, showed ragged-red fibers and wide-spread abnormalities in the number, size, and the structure of mitochondria under electronomicroscopic examination. A biochemical analysis showed a low activity of NADH-cytochrome C reductase, NADH dehydrogenase and a normal activity of succinate cytochrome C reductase and cytochrome C oxidase. This data suggests a specific defect in the NADH dehydrogenase of complex I (NADH CoQ reductase). We believe that this is the first biochemically defined mitochondrial myopathy reported in Taiwan and provides additional evidence for the existence of biochemical heterogeneity in mitochondrial disorders of CPEO.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chronic Disease
  • Electron Transport Complex I
  • Female
  • Humans
  • Mitochondria, Muscle / pathology
  • NADH, NADPH Oxidoreductases / deficiency*
  • Ophthalmoplegia / enzymology*
  • Ophthalmoplegia / pathology

Substances

  • NADH, NADPH Oxidoreductases
  • Electron Transport Complex I