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

G.L. O'Grady, H.A. Best, T.E. Sztal, V. Schartner, M. Sanjuan-Vazquez, S. Donkervoort, O. Abath Neto, R.B. Sutton, B. Ilkovski, N.B. Romero, T. Stojkovic, J. Dastgir, L.B. Waddell, A. Boland, Y. Hu, C. Williams, A.A. Ruparelia, T. Maisonobe, A.J. Peduto, S.W. ReddelM. Lek, T. Tukiainen, B.B. Cummings, H. Joshi, J. Nectoux, S. Brammah, J.F. Deleuze, V.O. Ing, G. Ramm, D. Ardicli, Kristen Nowak, B. Talim, H. Topaloglu, Nigel Laing, K.N. North, D.G. Macarthur, S. Friant, N.F. Clarke, R.J. Bryson-Richardson, C.G. Bönnemann, J. Laporte, S.T. Cooper

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