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Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome |
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| Authors: | Martine Tetreault Somayyeh Fahiminiya Hana Antonicka Grant A. Mitchell Michael T. Geraghty Matthew Lines Kym M. Boycott Eric A. Shoubridge John J. Mitchell Jacques L. Michaud Jacek Majewski CareRare Canada Consortium |
| Affiliation: | 1. Department of Human Genetics, McGill University, Montreal, QC, H3A 1B1, Canada 2. McGill University and Genome Quebec Innovation Center, 740 Dr Penfield, Montreal, QC, H3A 1A4, Canada 3. Montreal Neurological Institute, McGill University, Montreal, QC, H3A 2B4, Canada 4. Department of Pediatrics, Universite de Montreal, Montreal, QC, H3T 1C5, Canada 5. CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada 6. Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada 7. Department of Pediatrics, Montreal Children’s Hospital, Montreal, QC, H3H 1P3, Canada 8. Department of Neurosciences, Universite de Montreal, Montreal, QC, H3C 3J7, Canada |
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