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

Volume: 21, Issue: 1, Pages: 144 - 151
Published: Jan 1, 2019
Abstract
PurposeHeritable 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.MethodsClinical data from 60 cases with MYLK pathogenic variants were analyzed (five null and two missense variants), and the effect of missense variants on kinase activity was assessed.ResultsTwenty-three...
Paper Details
Title
MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants
Published Date
Jan 1, 2019
Volume
21
Issue
1
Pages
144 - 151
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