Associated Papers
A rare case of myopathy with fatigability due to PYROXD1 variation.
Baskar D et al.
Journal of Neuromuscular Diseases, 2025
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1
Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.
Daimagüler HS et al.
American Journal of Medical Genetics. Part A, 2021
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
32037607 (PubMed )
Supplement: NEUP-40-302-s001.zip › NEUP_12641_Patient_Table_Redux.pdf
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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