Metabolic, Fibrotic, and Splicing Pathways Are All Altered in Emery-Dreifuss Muscular Dystrophy Spectrum Patients to Differing Degrees
Jose I. de las Heras, Vanessa Todorow, Lejla Krečinić-Balić, Stefan Hintze, Rafal Czapiewski, Shaun Webb, Benedikt G. H. Schoser, Peter Meinke, Eric C. Schirmer
This study identifies altered metabolic, fibrotic, and splicing pathways in EDMD patients through RNA-Seq and pathway analysis, revealing subgroup distinctions and potential biomarkers.
Human Molecular Genetics · Oct 21, 2022Peer-reviewedGenetics