Aside from KLHL16 mutations in GAN, other diseases linked to this gene family include intermediate epidermolysis bullosa simplex (EBS) with cardiomyopathy caused by KLHL24 mutations (Yenamandra et al., 2018), early-onset distal myopathy due to KLHL9 mutations (Cirak et al., 2010), and congenital nemaline myopathies caused by KLHL40 (Ravenscroft et al., 2013) and KLHL41 (Gupta et al., 2013) mutations. This evidence concerns the gene KLHL24 and distal myopathy.