| Autor: |
Rivner, M. H., Shamsnia, M., Swift, T. R., Trefz, J., Roesel, R. A., Carter, A. L., Yanamura, W., Hommes, F. A. |
| Zdroj: |
Neurology (Ovid); May 1989, Vol. 39 Issue: 5 p693-696, 4p |
| Abstrakt: |
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 microacopy 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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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