Diagnosis of mitochondrial disease: assessment of mitochondrial DNA heteroplasmy in blood.

@article{Taylor1998DiagnosisOM,
  title={Diagnosis of mitochondrial disease: assessment of mitochondrial DNA heteroplasmy in blood.},
  author={Robert W Taylor and Geoffrey A. Taylor and Christopher M Morris and J Michael Edwardson and Douglass Matthew Turnbull},
  journal={Biochemical and biophysical research communications},
  year={1998},
  volume={251 3},
  pages={883-7}
}
Mitochondrial DNA (mtDNA) mutations are an important cause of neurological disease. The identification of causative mtDNA mutations may be particularly troublesome in blood where there are often low levels of mutant mtDNA. This is evident from a recent study in which heteroplasmic mtDNA mutations in cytochrome c oxidase genes were incorrectly thought to be linked to Alzheimer's disease. We wished to explore whether analysis of blood mtDNA, prepared by a number of DNA extraction procedures… CONTINUE READING
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