Collaborator: The University of Texas

• MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

  Abstract Purpose Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLK missense variants are pathogenic and information to guide aortic disease management are limited. Methods Clinical data from 60 cases with MYLK pathogenic variants were analyzed (five null and two missense variants), and the effect of missense variants…