Patient I35 had two pathogenic nonsense variants on MYLK (OMIM: *600922) and MYF5 (OMIM: *159990), associated with aortic aneurysm and familial thoracic (OMIM: 613780) [25], and external ophthalmoplegia with rib and vertebral anomalies (OMIM: 618155) [26], respectively. Here, MYLK is linked to External ophthalmoplegia.