The in-depth evaluation of suspected mitochondrial disease.

@article{Haas2008TheIE,
  title={The in-depth evaluation of suspected mitochondrial disease.},
  author={Richard H. Haas and Sumit Parikh and Marni J. Falk and R P Saneto and Nicole I Wolf and Niklas Dar{\'i}n and L. J. C. Wong and Bruce H. Cohen and Robert K. Naviaux},
  journal={Molecular genetics and metabolism},
  year={2008},
  volume={94 1},
  pages={16-37}
}
Mitochondrial disease confirmation and establishment of a specific molecular diagnosis requires extensive clinical and laboratory evaluation. Dual genome origins of mitochondrial disease, multi-organ system manifestations, and an ever increasing spectrum of recognized phenotypes represent the main diagnostic challenges. To overcome these obstacles, compiling information from a variety of diagnostic laboratory modalities can often provide sufficient evidence to establish an etiology. These… CONTINUE READING
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