Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics.

@article{Lombes1989MyoclonicEA,
  title={Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics.},
  author={Anne Lombes and Jerry R. Mendell and Hirofumi Nakase and Richard J Barohn and Eduardo Bonilla and Massimo Zeviani and A J Yates and J Omerza and Tracy L Gales and Keiichi Nakahara},
  journal={Annals of neurology},
  year={1989},
  volume={26 1},
  pages={20-33}
}
A 36-year-old man with myoclonic epilepsy and ragged-red fibers (MERRF) died after more than 18 years of follow-up study. He was 1 of 3 affected siblings and the offspring of an affected mother, suggesting maternal transmission. At autopsy, there was neuronal loss and gliosis in the dentate nucleus of the cerebellum and in the inferior olivary nucleus. Skeletal muscle showed ragged-red fibers, and paracrystalline inclusions in mitochondria by electron microscopy. Biochemical analysis showed a… CONTINUE READING
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