Like other dystroglycanopathies, GMPPB mutations manifest with a spectrum of clinical features of variable severity, spanning from congenital muscular dystrophies (CMD) with brain and eye abnormalities to limb-girdle muscular dystrophies (LGMD) to exercise intolerance and rhabdomyolysis [6,7]. This evidence concerns the gene GMPPB and limb-girdle muscular dystrophy.