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- W1988155478 abstract "We describe a 17-year-old boy with a clinical neurologic picture consistent with Kearns-Sayre syndrome. His manifestations included progressive external ophthalmoplegia, bilateral ptosis, retinitis pigmentosa, and muscle weakness. He was found to harbor an abundant novel deletion in skeletal muscle mitochondrial DNA. Biochemical analysis of the patient's biopsied skeletal muscle showed that the specific activities of all four respiratory complexes with mitochondrial DNA-encoded subunits were markedly reduced in contrast to normal activity levels of entirely nuclear DNA-encoded enzyme activities (eg, complex II and citrate synthase). Ultrastructural analysis also indicated the presence of strikingly abnormal mitochondria with both unusual cristae and frequent paracrystalline inclusions. The great amount of the deleted mitochondrial DNA in this patient's muscle, as well as the concomitant reduction in specific respiratory complex activity, suggests that the mitochondrial DNA deletion plays a role in the pathogenesis of this neurologic disease. ( J Child Neurol 2000;15:555-558)." @default.
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- W1988155478 date "2000-08-01" @default.
- W1988155478 modified "2023-09-24" @default.
- W1988155478 title "Kearns-Sayre Syndrome With a Novel Mitochondrial DNA Deletion" @default.
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- W1988155478 doi "https://doi.org/10.1177/088307380001500812" @default.
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