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Kearns-sayre syndrome: Biochemical studies of mitochondrial metabolism

✍ Scribed by M. E. Martens; P. L. Peterson; Dr. C. P. Lee; M. A. Nigro; Z. Hart; M. Glasberg; J. S. Hatfield; C. H. Chang

Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
699 KB
Volume
24
Category
Article
ISSN
0364-5134

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## Abstract A 48‐year‐old man presented with a complex phenotype of myoclonus epilepsy with ragged‐red fibers (MERRF) syndrome and Kearns–Sayre syndrome (KSS), which included progressive myoclonus epilepsy, cerebellar ataxia, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopath