TOR1AIP1 and limb-girdle muscular dystrophy: For example, two siblings with a homozygous frameshift, c.186delG p. Glu62fs*, that only affects LAP1B presented with a relatively mild clinical phenotype including limb-girdle muscular dystrophy with atrophy, contractures and a dilated cardiomyopathy (Kayman-Kurekci et al., 2014).