Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine
Gina L O'Grady, Heather A Best, Emily C Oates, Simranpreet Kaur, Amanda Charlton, Susan Brammah, Jaya Punetha, Akanchha Kesari, Kathryn N North, Biljana Ilkovski, Eric P Hoffman, Nigel F Clarke
European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2015
Awarded by National Health and Medical Research Council (Australia) grants
Awarded by National Institutes of Health (USA)
This study was supported by National Health and Medical Research Council (Australia) grants 1022707, 1031893 & 1026933 (KNN, NFC), and 1056285 (GLO); National Institutes of Health (USA) 3R01 NS29525 (EPH); and The Australian Postgraduate Award, The University of Sydney (HAB).