Mutations in FKRP can cause a range of phenotypes, including MDC1C (a severe congenital muscular dystrophy) [6], Walker-Warburg syndrome[7], muscle-eye-brain disease[7], a severe form of limb-girdle muscular dystrophy type 2I (LGMD2I), and a mild form of LMGD2I[8]. This evidence concerns the gene FKRP and muscle-eye-brain disease.