Sarcoid myopathy and mitochondrial respiratory chain defects: clinicopathological, biochemical and molecular biological analyses.
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.
Reichmann
H
H
Department of Neurology, University of Würzburg, Germany.
Schalke
B
B
Seibel
P
P
Naumann
M
M
Toyka
K
K
D000328:Adult; D015139:Blotting, Southern; D004247:DNA / Q000032:analysis; D004579:Electron Transport / Q000235:genetics*; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D017240:Mitochondrial Myopathies / Q000150:complications / Q000201:enzymology* / Q000235:genetics*; D018485:Muscle Fibers, Skeletal / Q000201:enzymology; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D009220:Myositis / Q000150:complications* / Q000235:genetics / Q000473:pathology; D012507:Sarcoidosis / Q000150:complications* / Q000473:pathology; D013384:Succinate Cytochrome c Oxidoreductase / Q000172:deficiency; D013385:Succinate Dehydrogenase / Q000172:deficiency
D004247:DNA; D013384:Succinate Cytochrome c Oxidoreductase; D013385:Succinate Dehydrogenase