Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Authors: Gina O’Grady, Heather Best, Tamar E. Sztal, Vanessa Schartner, Myriam Sanjuan-Vazquez, Sandra Donkervoort, Osório Lopes Abath Neto, R. Bryan Sutton, Biljana Ilkovski, Norma B. Romero, Tanya Stojkovic, Jahannaz Dastgir, Leigh B. Waddell, Anne Boland, Ying Hu, Caitlin Williams, Avnika A. Ruparelia, Thierry Maisonobe, Anthony Peduto, Stephen Reddel, Monkol Lek, Taru Tukiainen, Beryl B. Cummings, Himanshu Joshi, Juliette Nectoux, Susan Brammah, Jean‐François Deleuze, Viola Oorschot Ing, Georg Ramm, Didem Ardıçlı, Kristen J. Nowak, Beril Talim, Haluk Topaloğlu, Nigel G. Laing, Kathryn N. North, Daniel G. MacArthur, Sylvie Friant, Nigel F. Clarke, Robert J. Bryson‐Richardson, Carsten G. Bönnemann, Jocelyn Laporte, Sandra T. Cooper - The American Journal of Human Genetics 2016 cited by 106