Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.

@article{Ozawa1997MyoclonusEA,
  title={Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.},
  author={Matsuko Ozawa and Ichizo Nishino and Satoshi Horai and Ikuya Nonaka and Yu-ichi Goto},
  journal={Muscle & nerve},
  year={1997},
  volume={20 3},
  pages={
          271-8
        }
}
In addition to well-known mutations at nucleotide pair 8344 and 8356 in mitochondrial DNA in patients with myoclonus epilepsy associated with ragged-red fibers (MERRF), we found a new G-to-A point mutation at nucleotide 8363 in two Japanese families. The probands had the typical clinical characteristics of MERRF. Since the 8363 mutation was present in a heteroplasmic state, and seen in none of 92 patients with other mitochondrial diseases or 50 normal individuals, this mutation is thought to be… CONTINUE READING
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