KLHL40 and distal myopathy: 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.