Journal article

Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient

David K Miller, Minal J Menezes, Cas Simons, Lisa G Riley, Sandra T Cooper, Sean M Grimmond, David R Thorburn, John Christodoulou, Ryan J Taft



Awarded by National Health and Medical Research Council of Australia (NHMRC)

Funding Acknowledgements

The authors thank Illumina Inc. for their support of this project, and the Queensland Center for Medical Genomics and the IMB Sequencing Core for their assistance. This research was supported by National Health and Medical Research Council of Australia (NHMRC) Project Grant 1026891, and a University of Queensland Foundation Research Excellence Award to RJT. MM is an Australian Mitochondrial Diseases Foundation (AMDF) Postgraduate Research Scholar. DRT is an NHMRC Principal Research Fellow. The authors thank Wendy Fagan for assistance with enzyme assays and are grateful to the Crane and Perkins families for their generous financial support. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.