Rare Non-Synonymous Variant in the Smooth Muscle-Specific Isoform of Myosin Heavy Chain MYH11 R247C Alters Force Generation in the Aorta and Phenotype of Smooth Muscle Cells

摘要

RationaleMutations in MYH11 cause autosomal dominant inheritance of thoracic aortic aneurysms and dissections. At the same time, rare, non-synonymous variants in MYH11 that are predicted to disrupt protein function but do not cause inherited aortic disease are common in the general population and the vascular disease risk associated with these variants is unknown.