Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.

@article{Dinwiddie2013DiagnosisOM,
  title={Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.},
  author={Darrell Lee Dinwiddie and Laurie Denise Smith and Neil A Miller and Andrea Michelle Atherton and Emily G Farrow and Meghan E Strenk and Sarah Elizabeth Soden and Carol Jean Saunders and Stephen F Kingsmore},
  journal={Genomics},
  year={2013},
  volume={102 3},
  pages={148-56}
}
Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome sequencing we demonstrate the ability to rapidly and cost effectively evaluate both the nuclear and mitochondrial genomes to obtain a molecular diagnosis for four patients with three distinct mitochondrial disorders. One patient was found to have Leigh syndrome due to a mutation in MT-ATP6, two affected siblings… CONTINUE READING