Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy
Maria M Zwartkruis, Joris V Kortooms, Demi Gommers, Martin Elferink, Ilaria Signoria, Joyce van der Sel, Paul J. Hop, Ramona A.J. Zwamborn, Robin Geene, Jared W Green, Hanneke W. M. van Deutekom, Wouter van Rheenen, Jan Herman Veldink, Fay‐Lynn Asselman, Renske I. Wadman, , Ewout J. N. Groen
This study analyzes SMN2 DNA methylation in SMA patients and finds no association with disease severity or treatment response, but identifies age-related methylation changes.
iScience · Apr 17, 2025Peer-reviewedGenetic & Genomic Medicine