A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity
Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes encoding sarcomere proteins.Mutations in MYL3, encoding the essential light chain of myosin, are rare and have been associated with sudden death.Both recessive and dominant patterns of inheritance have been suggested.We studied a large family with a 38-year-old asymptomatic HCM-affec