Article
The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings.
Neuromuscular disorders : NMD - 1 Nov 1995
Ozawa M, Goto Y, Sakuta R, Tanno Y, Tsuji S, Nonaka I
Abstract excerpt
Ten patients, two men and eight women with mitochondrial encephalomyopathy, had an A-G mutation at nucleotide pair 8,344 in the mitochondrial DNA, the most common genetic defect in myoclonus epilepsy with ragged-red fibers (MERRF). Eight patients had the clinical and pathologic characteristics of MERRF including myoclonus, seizures, cerebellar ataxia and myopathy with ragged-red fibers. Two patients had atypical...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- Child, Preschool
- DNA Mutational Analysis
- DNA, Mitochondrial
- Electron Transport Complex IV
- Female
- Histocytochemistry
- Humans