Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.

@article{Campos1996SporadicMO,
  title={Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.},
  author={Yolanda Le{\'o}n Campos and Miguel Angel Martin and Guglielmo Lorenzo and Michel Aparicio and Ana Cabello and Joaqu{\'i}n Arenas},
  journal={Muscle & nerve},
  year={1996},
  volume={19 2},
  pages={
          187-90
        }
}
We studied a patient with a mitochondrial encephalomyopathy characterized by the presence of all the cardinal features of both myoclonic epilepsy and ragged-red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndromes. Muscle biopsy showed ragged-red fibers (RRF). Some RRF were cytochrome c oxidase (COX)-negative while some others stained positive for COX. Muscle biochemistry revealed defects of complexes I and IV of the respiratory chain… CONTINUE READING

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