Mutations in fukutin-related protein (FKRP) are associated with muscular dystrophies (MDs) of remarkably variable clinical severity, ranging from mild limb-girdle MD type 2I (LGMD2I, also known as LGMDR9) to severe forms of congenital MD (CMD), including Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB) (Beltran-Valero de Bernabé et al., 2004; Mercuri et al., 2003; Topaloglu et al., 2003). This evidence concerns the gene FKRP and muscle-eye-brain disease.