TOR1AIP1 and Cerebellar atrophy: In addition to the genes named above, biallelic pathogenic variants in TOR1AIP1 (MIM: 614512), encoding the integral nuclear membrane protein LAP1 (lamina-associated polypeptide 1), have been described in a family with three individuals affected by muscular dystrophy with variable cardiac involvement (Kayman-Kurekci et al. 2014), in a boy affected by dystonia, cerebellar atrophy, and cardiomyopathy (Dorboz et al. 2014), and in two siblings affected by cardiac failure and muscular dystrophy.(Ghaoui et al. 2016).