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
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
Evesson FJ et al.
Human Molecular Genetics, 2023
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