Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, short stature, ataxia, cardiac conduction defects, and pigmentary retinopathy. Muscle biopsy revealed ragged-red fibers. Electron microscopy showed increased numbers of mitochondria with disordered structure and paracrystalline inclusions. Enzymatic analysis revealed a deficiency of complex II of the mitochondrial respiratory chain, and, more specifically, a deficiency of succinic dehydrogenase, although both subunits of this enzyme proved to be present by immunologic analysis. Therapy with vitamin cofactors did not result in short-term improvement. This appears to be the first report of complex II deficiency in a patient with KSS.
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PMID:Kearns-Sayre syndrome and complex II deficiency. 271 Mar 60

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.
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PMID:[A case of mitochondrial enzymopathy]. 297 67