Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Gina L. O’Grady, Heather A. Best, Tamar E. Sztal, Vanessa Schartner, Myriam Sanjuan-Vazquez, Sandra Donkervoort, Osorio Abath Neto, Roger Bryan Sutton, Biljana Ilkovski, Norma Beatriz Romero, Tanya Stojkovic, Jahannaz Dastgir, Leigh B. Waddell, Anne Boland, Ying Hu, Caitlin Williams, Avnika A. Ruparelia, Thierry Maisonobe, Anthony J. Peduto, Stephen W. Reddel, Monkol Lek, Taru Tukiainen, Beryl B. Cummings, Himanshu Joshi, Juliette Nectoux, Susan Brammah, Jean-François Deleuze, Viola Oorschot Ing, Georg Ramm, Didem Ardicli, Kristen J. Nowak, Beril Talim, Haluk Topaloglu, 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 – Cell, September 7, 2016