[A case of mitochondrial enzymopathy].
A case of mitochondrial enzymopathy, called also ophthalmoplegia plus, was observed in a 31-year-old man. Histoenzymatic investigations demonstrated in the myocytes decreased and irregularity of reactions for succinic dehydrogenase, tetrazole reductase and mitochondrial ATPase. In electron microscopy paracrystalline structures, lamellar bodies and concentrically condensed cristae were seen in the mitochondria, and increased glycogen stores outside the mitochondria.
Parafiniuk
W
W
Zakładu Patomorfologii Klinicznej Instytutu Patologii PAN w Szczecinie.
Kowalczyk
K
K
Bajko
J
J
Sycz
K
K
D000251:Adenosine Triphosphatases / Q000172:deficiency*; D000328:Adult; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000201:enzymology* / Q000648:ultrastructure; D009133:Muscular Atrophy / Q000209:etiology / Q000473:pathology*; D009246:NADH Tetrazolium Reductase / Q000172:deficiency*; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D013385:Succinate Dehydrogenase / Q000172:deficiency*
D013385:Succinate Dehydrogenase; D009246:NADH Tetrazolium Reductase; D009247:NADH, NADPH Oxidoreductases; D000251:Adenosine Triphosphatases
Przypadek enzymopatii mitochondrialnej.