Article
Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy.
Human genetics - 1 Nov 1992
Lertrit P, Noer A S, Byrne E, Marzuki S
Abstract excerpt
The distribution of the causal 8344A-->G mtDNA mutation has been examined in six tissues of a patient with myoclonic epilepsy with ragged red fibers (MERRF), to study the developmental genetics of this type of mitochondrial disorder, and to determine the pathophysiological importance of the mtDNA heteroplasmy generally observed in such patients. Heteroplasmy of the mtDNA was observed in all six tissues...
Topics
- Adult
- DNA, Mitochondrial
- Epilepsies, Myoclonic
- Humans
- Male
- Mitochondrial Encephalomyopathies
- Mutation
- Polymerase Chain Reaction
- Syndrome