Article
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
American journal of human genetics - 3 Nov 2016
O'Grady Gina L, Best Heather A, Sztal Tamar E, Schartner Vanessa, Sanjuan-Vazquez Myriam, Donkervoort Sandra, Abath Neto Osorio, 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 Taru, Cummings Beryl B, Joshi Himanshu, Nectoux Juliette, Brammah Susan, Deleuze Jean-François, 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, Bönnemann Carsten G, Laporte Jocelyn, Cooper Sandra T
Abstract excerpt
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 variants in PYROXD1 in nine probands from five families. Affected individuals presented in infancy or childhood with slowly progressive proximal and distal weakness, facial...
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