EMD Gene
The EMD gene provides instructions for making a protein called emerin. Although this protein is produced in many tissues, the gene is particularly important for the normal function of skeletal muscles and the cardiac muscle. Emerin and related proteins also play a role in assembling the nucleus during the process of cell division. More than 100 mutations in the EMD gene have been reported in people with Emery-Dreifuss muscular dystrophy. This condition affects skeletal and cardiac muscle, causing joint deformities called contractures, which restrict the movement of certain joints, muscle weakness and wasting that worsen over time. A specific heart problem includes an increased risk of sudden death.
