Sarcoid myopathy and mitochondrial respiratory chain defects: clinicopathological, biochemical and molecular biological analyses

Neuromuscul Disord. 1995 Jul;5(4):277-83. doi: 10.1016/0960-8966(94)00060-m.

Abstract

We report on a 33-yr-old female patient with myalgia, CK values up to 3500 Ul-1 and proximal weakness. An initial muscle biopsy showed myositis. One year later an enlarged lymph node was investigated and sarcoidosis diagnosed. In a second muscle biopsy inflammatory cells and morphological characteristics of mitochondrial myopathy were found. Biochemical analyses indicated a 50% reduction in complex II activity of the respiratory chain. Due to failure in clinical improvement a third muscle biopsy was performed in 1990 where only 19% of normal complex II activity was present. Southern blot analysis of the mitochondrial genome was normal. Thus for the first time we describe a patient with sarcoid myopathy and a complex II deficiency. Our interpretation is that a pre-existing complex II defect became clinically relevant because of additional sarcoid myopathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blotting, Southern
  • DNA / analysis
  • Electron Transport / genetics*
  • Female
  • Humans
  • Microscopy, Electron
  • Mitochondrial Myopathies / complications
  • Mitochondrial Myopathies / enzymology*
  • Mitochondrial Myopathies / genetics*
  • Muscle Fibers, Skeletal / enzymology
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / ultrastructure
  • Myositis / complications*
  • Myositis / genetics
  • Myositis / pathology
  • Sarcoidosis / complications*
  • Sarcoidosis / pathology
  • Succinate Cytochrome c Oxidoreductase / deficiency
  • Succinate Dehydrogenase / deficiency

Substances

  • DNA
  • Succinate Cytochrome c Oxidoreductase
  • Succinate Dehydrogenase