Mutations in the fukutin-related protein (FKRP) gene result in a broad spectrum of muscular dystrophy (MD) phenotypes, ranging from mild Limb-Girdle MD (LGMDR9) to Walker-Warburg syndrome (WWS), the most severe form of congenital MD (CMD) (Beltran-Valero de Bernabé et al., 2004; Brockington et al., 2001a; Brockington et al., 2001b). Here, FKRP is linked to Menkes disease.