Associated Papers
A rare case of myopathy with fatigability due to PYROXD1 variation.
Baskar D et al.
Journal of Neuromuscular Diseases, 2025
Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.
Woods JD et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.
Lornage X et al.
Acta Neuropathologica Communications, 2019
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
O'Grady GL et al.
American Journal of Human Genetics, 2016
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