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


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 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 312 Issue: 1
  • Publication Date: 2014
  • Doi Number: 10.1001/jama.2014.7184
  • Journal Name: JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.68-77

Abstract

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.