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. Author manuscript; available in PMC: 2019 Mar 5.
Published in final edited form as: Genet Med. 2018 Jun 20;21(1):144–151. doi: 10.1038/s41436-018-0038-0

Figure 1. Pathogenic MYLK variants and segregation of variant p.Tyr1575His in famIT-001.

Figure 1

A. A schematic depiction of the long and short form of myosin light chain kinase (MLCK) shows the location of the MYLK pathogenic variants included in these studies. All variants are located in the short form of MLCK, which is the only form expressed in the thoracic aorta. Carriers of the variants depicted here were included in the phenotypic analysis. B. The pedigree depicts a multi-generational family with two distant arms affected with thoracic aortic disease. Church parish records were used to confirm common ancestry. Circles represent females, squares represent males. A line through the individual indicates that they are deceased and the legend provides information about the phenotype associated with shaded symbols. T/C is used to denote the pathogenic variant genotype and T/T is used to denote the WT genotype.