O'Grady, Gina L.; Best, Heather A.; Sztal, Tamar E.; Schartner, Vanessa; Sanjuan-Vazquez, Tvlyriam; Donkervoort, Sandra; Neto, Osorio Abath; Sutton, Roger Bryan; Ilkovski, Biljana; Romero, Norma Beatriz; Stojkovic, Tanya; Dastgir, Jahannaz; Waddell, Leigh B.; Boland, Anne; Hu, Ying; Williams, Caitlin; Ruparelia, Avnika A.; Maisonobe, Thierry; Peduto, Anthony J.; Reddel, Stephen W.; Lek, Monkol; Tukiainen, Tam; Cummings, Beryl B.; Joshi, Himanshu; Nectoux, Juliette; Brammah, Susan; Deleuze, Jean-Francois; Ing, Viola Oorschot; Ramm, Georg; Ardicli, Didem; Nowak, Kristen J.; Talim, Beril; Topaloglu, Haluk; Laing, Nigel G.; North, Kathryn N.; MacArthur, Daniel G.; Friant, Sylvie; Clarke, Nigel F.; Bryson-Richardson, Robert J.; Bonnemann, Carsten G.; Laporte, Jocelyn; Cooper, Sandra T. (Cell Press, 2016)
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal muscle. Exome sequencing ...