Mitochondrial disorders. Methods and specimen selection for diagnostic molecular pathology.

@article{Kiechle1996MitochondrialDM,
  title={Mitochondrial disorders. Methods and specimen selection for diagnostic molecular pathology.},
  author={Frederick L. Kiechle and Karen L Kaul and Daniel H. Farkas},
  journal={Archives of pathology & laboratory medicine},
  year={1996},
  volume={120 6},
  pages={597-603}
}
Mitochondrial DNA is a circular double-stranded macromolecule. Each strand contains 16 569 base pairs. Mutations in mitochondrial DNA, including base substitutions in tRNA or rRNA genes, deletions, duplications, or base substitutions in genes for protein subunits, lead to specific diseases. The ratio of mutated to normal mitochondrial DNA may vary from tissue to tissue (heteroplasmy) in mitochondrial DNA diseases. Therefore, the source of the specimen is important in the evaluation of… CONTINUE READING