Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Page 1 of 1
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bönnemann CG, Laporte J, Cooper ST. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet. 2016 Sep 28. pii: S0002-9297(16)30385-8. doi: 10.1016/j.ajhg.2016.09.005. [Epub ahead of print]
Similar topics
» Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
» Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
» Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy
» FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency
» Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores
» Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
» Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy
» FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency
» Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum
|
|