Published in
American Medical Association, Journal of the American Medical Association, 1(312), p. 68
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Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
Journal article published in 2014 by
Robert W. Taylor,
Angela Pyle,
Helen Griffin 
,
Emma L. Blakely,
Jennifer Duff,
Langping He,
Tania Smertenko,
Charlotte L. Alston,
Vivienne C. Neeve,
Andrew Best,
John W. Yarham,
Janbernd Kirschner,
Ulrike Schara,
Beril Talim,
Haluk Topaloglu
and other authors.
,
Emma L. Blakely,
Jennifer Duff,
Langping He,
Tania Smertenko,
Charlotte L. Alston,
Vivienne C. Neeve,
Andrew Best,
John W. Yarham,
Janbernd Kirschner,
Ulrike Schara,
Beril Talim,
Haluk Topaloglu
and other authors.
This paper is made freely available by the publisher.
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Abstract
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.