Mutations in the KLHL40 gene were related to severe nemaline myopathy type 8 (NEM8; MIM 615348) with recessive inheritance, including clinical signs of akinesia, arthrogryposis, hypotonia, chest deformities, respiratory problems, and fractures, leading to death in early childhood [47,53]. Here, KLHL40 is linked to nemaline myopathy 8.