Abstract:
: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.
journal_name
Neurologyjournal_title
Neurologyauthors
Rivner MH,Shamsnia M,Swift TR,Trefz J,Roesel RA,Carter AL,Yanamura W,Hommes FAdoi
10.1212/wnl.39.5.693subject
Has Abstractpub_date
1989-05-01 00:00:00pages
693-6issue
5eissn
0028-3878issn
1526-632Xjournal_volume
39pub_type
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