Abstract
Emerin (EMD) is an inner nuclear envelope protein critical to the integrity of the nucleoskeleton and mechanotransduction. Loss-of-Function (LoF) variants in EMD results in Emery-Dreifuss muscular dystrophy type 1 (EDMD1). This syndrome is characterized by a proximal skeletal myopathy associated with joint contractures and cardiac conduction disease. Several small reports have suggested that pathogenic EMD variants are associated with a cardiac emerinopathy (cardiomyopathy without evidence of skeletal myopathy).
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