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

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@article{OGrady2016VariantsIT, title={Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.}, author={Gina L. O'Grady and Heather A Best and Tamar E. Sztal and Vanessa Schartner and Myriam Sanjuan-Vazquez and Sandra C. Donkervoort and Os{\'o}rio Abath Neto and Roger Bryan Sutton and Biljana Ilkovski and Norma Beatriz Romero and Tanya Stojkovic and Jahannaz Dastgir and Leigh B. Waddell and Anne Boland and Ying Hu and Caitlin L. Williams and Avnika A. Ruparelia and Thierry Maisonobe and Anthony J. Peduto and Stephen W R Reddel and Monkol Lek and Taru Tukiainen and Beryl B. Cummings and Himanshu Joshi and Juliette Nectoux and Susan Brammah and Jean-François Deleuze and Viola Oorschot Ing and Georg Ramm and Didem Ardicli and Kristen Jean Nowak and Beril Talim and Haluk Topaloğlu and Nigel G Laing and Kathryn N North and Daniel G. MacArthur and Sylvie Friant and Nigel F. Clarke and Robert J. Bryson-Richardson and Carsten G B{\"{o}nnemann and Jocelyn Laporte and Sandra T Cooper}, journal={American journal of human genetics}, year={2016}, volume={99 5}, pages={1086-1105} }