Congenital muscular dystrophies are emerging as a rare clinical manifestation of IDT and have only recently been reported in individuals with progressive muscle weakness and seizures, whom were found to have recessive variants in TRAPPC11 and in rare patients with GOSR2 variants (Larson et al, 2018; Henige et al, 2021; Stemmerik et al, 2021). Here, GOSR2 is linked to muscular dystrophy.