GNE myopathy (MIM 605820) is an autosomal recessive muscle disease caused by biallelic mutations in the GNE gene (MIM 603824) that encodes for the bifunctional enzyme, uridine diphosphate (UDP)‐N‐acetylglucosamine (GlcNAc) 2‐epimerase/N‐acetylmannosamine (ManNAc) kinase (Eisenberg et al. The gene discussed is GNE; the disease is Distal myopathy, Nonaka type.