Journal article

Diagnosis and Etiology of Congenital Muscular Dystrophy: We Are Halfway There

Gina L O'Grady, Monkol Lek, Shireen R Lamande, Leigh Waddell, Emily C Oates, Jaya Punetha, Roula Ghaoui, Sarah A Sandaradura, Heather Best, Simranpreet Kaur, Mark Davis, Nigel G Laing, Francesco Muntoni, Eric Hoffman, Daniel G MacArthur, Nigel F Clarke, Sandra Cooper, Kathryn North

Annals of Neurology | WILEY | Published : 2016


Awarded by National Health and Medical Research Council of Australia

Awarded by National Human Genome Research Institute (NIH)

Funding Acknowledgements

Supported by the National Health and Medical Research Council of Australia (1022707, 1031893, N.F.C, N.G.L., K.N.; APP1002147, N.G.L.; 1056285, G.L.O.; 633194, E.C.O.) and the Victorian Government's Operational Infrastructure Support Program. G.L.O. received funding from Muscular Dystrophy NSW and the Royal Australasian College of Physicians. Exome sequencing was supported by grants from the National Human Genome Research Institute (NIH) (Medical Sequencing Program grant U54 HG003067 to the Broad Institute principal investigator, E.L.). Targeted sequencing was supported by the NIH (3R01NS29525, E.H.).We thank Muscular Dystrophy UK, the Biomedical Research Centre, and the National Specialist Commissioning Team for the support of the Dubowitz Neuromuscular Centre at Great Ormond Street Hospital.