In particular, KLHL40 and KLHL41, that functions as substrate-specific adaptors for E3 ubiquitin ligase CUL3, contribute to severe forms of congenital myopathy with neonatal lethality with extensive sarcomeric disarray and contractures (Ravenscroft et al., 2013; Gupta et al., 2013). Here, KLHL40 is linked to congenital myopathy with cores.