EMD

X-linked causal pathogenic variant. EMD encodes emerin, an inner nuclear membrane protein whose loss classically causes Emery-Dreifuss muscular dystrophy type 1, curated separately in this knowledge base. A distinct cardiac-only phenotype exists: the c.23C>G p.Ser8Trp missense variant co-segregated with DCM in six hemizygous males aged 36 to 50 with no muscular dystrophy, with greatly reduced myocardial emerin. The authors of that study note that before it the evidence for isolated DCM as an EMD phenotype was insufficient, so this gene is recorded here as an emerging rather than an established nonsyndromic DCM gene.