Familial mitochondrial encephalomyopathy with deaf-mutism, ophthalmoplegia and leukodystrophy.

@article{Nakagawa1995FamilialME,
  title={Familial mitochondrial encephalomyopathy with deaf-mutism, ophthalmoplegia and leukodystrophy.},
  author={Masanori Nakagawa and Yoshio Kaminishi and Yasushi Isashiki and Hideto Yamada and Itsuro Higuchi and Yuji Uchida and Mitsuhiro Osame},
  journal={Acta neurologica Scandinavica},
  year={1995},
  volume={92 1},
  pages={102-8}
}
We report two sisters (32 and 36 years old) with familial deaf-mutism, progressive external ophthalmoplegia, leukodystrophy and mitochondrial myopathy. T2-weighted brain MRI demonstrated diffuse symmetrical high intensity areas in the white matter. Their muscle biopsies showed ragged-red fibers and cytochrome c oxidase (CCO)-negative fibers. CCO activity in biopsied muscle decreased to about 20% of normal control. They had no deletions of the mitochondrial DNA and no point mutations in… CONTINUE READING