Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

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Taylor R. W., Pyle A., Griffin H., Blakely E. L., Duff J., He L., ...More

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, vol.312, no.1, pp.68-77, 2014 (SCI-Expanded) identifier identifier identifier


IMPORTANCE Mitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging. Multiple respiratory chain complex defects are particularly difficult to diagnose at the molecular level because of the massive number of nuclear genes potentially involved in intramitochondrial protein synthesis, with many not yet linked to human disease.