Associated Papers
EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.
Bulmer L et al.
European Journal of Human Genetics : Ejhg, 2025
40065010 (PubMed )
Supplement: 41431_2025_1827_MOESM1_ESM.pdf
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › INM_proteins
A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery-Dreifuss Muscular Dystrophy.
Dai X et al.
Case Reports in Genetics, 2020
A novel EMD mutation in a Chinese family with initial diagnosis of conduction cardiomyopathy.
Zhou J et al.
Brain and Behavior, 2019
Partial deficiency of emerin caused by a splice site mutation in EMD.
Yuan J et al.
Internal Medicine (tokyo, Japan), 2014
Select a paper to view details