title: Familial mitochondrial encephalomyopathy with deaf-mutism, ophthalmoplegia and leukodystrophy.
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.
authors.affiliation: Third Department of Internal Medicine, Kagoshima University, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: Y
authors.initials: Y
authors.lastname: Kaminishi
authors.forename: Y
authors.initials: Y
authors.lastname: Isashiki
authors.forename: H
authors.initials: H
authors.lastname: Yamada
authors.forename: I
authors.initials: I
authors.lastname: Higuchi
authors.forename: Y
authors.initials: Y
authors.lastname: Uchida
authors.forename: M
authors.initials: M
authors.lastname: Osame
mesh_terms: D000328:Adult; D001706:Biopsy; D001921:Brain / Q000473:pathology; D003241:Consanguinity; D030401:Cytochrome-c Oxidase Deficiency; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D017246:Ophthalmoplegia, Chronic Progressive External / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial