Mutations in the gene encoding fukutin-related protein (FKRP) cause a spectrum of disorders ranging in severity from limb girdle muscular dystrophy type R9 (LGMDR9, previously known as LGMD2I) to congenital muscular dystrophy (CMD) with structural brain abnormalities resembling Walker-Warburg Syndrome (WWS) and Muscle-Eye-Brain (MEB) disease (Brockington et al., 2001a; Brockington et al., 2001b; Mercuri et al., 2003; Topaloglu et al., 2003; Beltran-Valero de Bernabe et al., 2004; Louhichi et al., 2004; Straub et al., 2018). Here, FKRP is linked to muscular dystrophy-dystroglycanopathy, type A.