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

Authors
  • Nakagawa, M
  • Kaminishi, Y
  • Isashiki, Y
  • Yamada, H
  • Higuchi, I
  • Uchida, Y
  • Osame, M
Type
Published Article
Journal
Acta neurologica Scandinavica
Publication Date
Jul 01, 1995
Volume
92
Issue
1
Pages
102–108
Identifiers
PMID: 7572054
Source
Medline
License
Unknown

Abstract

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 mitochondrial tRNA. Their brother was diagnosed as having Kugelberg-Welander disease, grand mal seizures and urinary dysfunction. Their parents and grandparents had consanguinity. Three relatives were found to have deaf-mutism without accompanying ophthalmoplegia. This rare combination of mitochondrial encephalomyopathy and familial deaf-mutism might be caused by a nuclear DNA mutation in these sisters.

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