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

Autor: Tanya Stojkovic, Haluk Topaloglu, Robert J. Bryson-Richardson, Thierry Maisonobe, Ying Hu, Gina L. O'Grady, Roger Bryan Sutton, Myriam Sanjuan-Vazquez, D. Ardicli, Avnika A. Ruparelia, Sandra T. Cooper, Nigel F. Clarke, Monkol Lek, Beryl B. Cummings, Vanessa Schartner, Himanshu Joshi, Georg Ramm, Osorio Abath Neto, Taru Tukiainen, Sandra Donkervoort, Anthony Peduto, Juliette Nectoux, Norma B. Romero, Jean-François Deleuze, Viola Oorschot Ing, Beril Talim, Biljana Ilkovski, Stephen W. Reddel, Sylvie Friant, Carsten G. Bönnemann, Susan Brammah, Daniel G. MacArthur, Heather A. Best, Jahannaz Dastgir, Kristen J. Nowak, Tamar E. Sztal, Kathryn N. North, Anne Boland, Nigel G. Laing, Leigh B. Waddell, Jocelyn Laporte, Caitlin Williams

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (5), pp.1086-1105. ⟨10.1016/j.ajhg.2016.09.005⟩
American Journal of Human Genetics, 2016, 99 (5), pp.1086-1105. ⟨10.1016/j.ajhg.2016.09.005⟩

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 identified recessive varian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ccb284e53b3c5dc26599669a1bea27e
https://pubmed.ncbi.nlm.nih.gov/27745833