A recent review of 21 patients with GOSR2-associated disorders showed the phenotype in the frequently observed p.Gly144Trp founder variant [2], while milder phenotypes with compound heterozygous variants (c.430G>T,c.491_493delAGA) [23] and three patients with α-dystroglycan muscular dystrophy showed a combination of the founder variant and splice site or missense variant that led to an effect in the N-terminal part of the protein (c.430G>T,c.336+1G>A; c.430G>T,c.2T>G; c.430G>T,c.82C>T) [22,24]. Here, GOSR2 is linked to muscular dystrophy.