MYLK and triple-A syndrome: Four LB variants were observed in more than one patient: the synonymous MYLK c.4764G>A was present in three patients (two familial, one sporadic), the synonymous MYLK c.4179C>T and the intronic variant MYH11 c.5635-7G>A occurred in one familial and one sporadic patient, and the missense EFEMP2 p.Gly93ser was present in three patients with familial AAA without evidence of segregation.