A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation.

@article{Verma1996AMO,
  title={A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation.},
  author={Ashok Verma and Carlos T Moraes and Robert T Shebert and Walter G. Bradley},
  journal={Neurology},
  year={1996},
  volume={46 5},
  pages={1334-6}
}
We describe a two-generation family with combined clinical features of myoclonic epilepsy, progressive external ophthalmoplegia (PEO), proximal myopathy, pigmentary retinopathy, progressive deafness, basal ganglia calcification, and ragged-red fibers in a muscle biopsy specimen. One family member died unexpectedly at age 22 years. The molecular tests revealed an A-to-G transition at nucleotide position 3243 of the mitochondrial tRNA(Leu(UUR)) gene. No one in this family had stroke-like episodes… CONTINUE READING

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