TOR1AIP1 and limb-girdle muscular dystrophy: Rare recessive mutations in TOR1AIP1 have been reported to cause limb-girdle muscular dystrophy or dystonia, with cardiomyopathy or a severe multisystem disorder (Dorboz et al., 2014; Kayman-Kurekci et al., 2014; Ghaoui et al., 2016).