Benign mitochondrial myopathy with decreased succinate cytochrome C reductase activity

Acta Neurol Scand. 1994 Oct;90(4):281-4. doi: 10.1111/j.1600-0404.1994.tb02722.x.

Abstract

In most of the cases previously described, the defect on complex II was suggested by low activity of succinate cytochrome C reductase (SCCR). The clinical pattern of the previous 10 cases is heterogeneous and may be limited to one particular tissue or be of a more general nature. We report a 22-year-old-woman, daughter of consanguineous parents, with generalized muscle weakness, easy fatigability and benign course, who showed a decrease of SCCR activity in mitochondria of muscle fibers. Free carnitine (FC) concentration was decreased in muscle as well. The muscle biopsy showed a mild variation in fiber size, with fiber type I predominance, subsarcolemmal oxidative DPNH accumulations, excess of neutral lipids and abnormally large mitochondria with paracrystalline inclusions. A possible inheritance pattern is discussed. Coenzyme Q10 therapy in this patient induced a significant increase of global MRC index score and a decrease of the turns-mean amplitude ratio in the automatic analysis of the EMG.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biopsy
  • Consanguinity
  • Creatine Kinase / blood
  • Female
  • Humans
  • Microscopy, Electron
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / enzymology
  • Mitochondrial Myopathies / genetics*
  • Muscles / pathology
  • Neurologic Examination
  • Succinate Cytochrome c Oxidoreductase / deficiency*
  • Succinate Cytochrome c Oxidoreductase / genetics

Substances

  • Succinate Cytochrome c Oxidoreductase
  • Creatine Kinase