NEM8 (MIM #615348), caused by homozygous or compound heterozygous pathogenic variants in the KLHL40 gene (kelch like family member 40, MIM#615340), is a severe NEM characterized by early‐onset severe generalized muscle weakness or hypokinesia, with contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. This evidence concerns the gene KLHL40 and respiratory failure.