Article
Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees.
Human molecular genetics - 6 Mar 2023
de Las Heras Jose I, Todorow Vanessa, Krečinić-Balić Lejla, Hintze Stefan, Czapiewski Rafal, Webb Shaun, Schoser Benedikt, Meinke Peter, Schirmer Eric C
Abstract excerpt
Emery-Dreifuss muscular dystrophy (EDMD) is a genetically and clinically variable disorder. Previous attempts to use gene expression changes to find its pathomechanism were unavailing, so we engaged a functional pathway analysis. RNA-Seq was performed on cells from 10 patients diagnosed with an EDMD spectrum disease with different mutations in seven genes. Upon comparing to controls, the pathway analysis revealed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.