Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia

Abstract Biallelic variants in PYROXD1 are associated with a life limiting muscle and connective tissue disorder characterised by generalised muscle weakness, breathing and feeding difficulties, distal laxity, hypernasal speech, blue sclera and osteopenia. PYROXD1 encodes an oxidoreductase implicate...

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Autors principals:	Frances J. Evesson, Gregory Dziaduch, Joe Yasa, Heather A. Best, Leonit Kiriaev, Ignatius Pang, Vanessa Jones, Emma Kettle, Katharine Zhang, Ann-Katrin Piper, Jesse R. Wark, Isaac Scott, Himanshu Joshi, R. Bryan Sutton, Patrick P. L. Tam, Peter J. Houweling, Mark E. Graham, Michaela Yuen, Frances A. Lemcket, Sandra T. Cooper
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2026-03-01
Col·lecció:	Acta Neuropathologica Communications
Accés en línia:	https://doi.org/10.1186/s40478-026-02259-1
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