Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

@article{Chinnery1997MolecularPO,
  title={Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.},
  author={Patrick F. Chinnery and Nicky Howell and Robert N Lightowlers and Douglass Matthew Turnbull},
  journal={Brain : a journal of neurology},
  year={1997},
  volume={120 ( Pt 10)},
  pages={1713-21}
}
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 relationship between the level of mutation and mitochondrial respiratory chain function in vitro, it has been more difficult to demonstrate a clear correlation between clinical phenotype and the level of… CONTINUE READING