Article
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
Brain : a journal of neurology - 1 Oct 1997
Chinnery P F, Howell N, Lightowlers R N, Turnbull D M
Abstract excerpt
Many patients with inherited mitochondrial encephalopathies have one of two pathogenic mutations of mitochondrial DNA (mtDNA): A3243G or A8344G. Individuals who harbour these mutations carry both mutant and wild-type alleles within each cell (heteroplasmy). Despite clear evidence of a direct rela...
Topics
- DNA, Mitochondrial
- Genetics, Population
- Humans
- MELAS Syndrome
- MERRF Syndrome
- Mutation
- Phenotype