Familial mitochondrial encephalomyopathy with deaf-mutism, ophthalmoplegia and leukodvstrophy.
- 1 July 1995
- journal article
- Published by Hindawi Limited in Acta Neurologica Scandinavica
- Vol. 92 (1) , 102-108
- https://doi.org/10.1111/j.1600-0404.1995.tb00475.x
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.Keywords
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