Indeed, mutations of FKRP, which is involved in synthesis of a tandem RboP structure, cause congenital muscular dystrophy;17–23 more than 15 missense mutations in the FKRP gene were found in LGMD2I (limb-girdle muscular dystrophy type 2I), MDDGB5 [muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation, type B, 5)], and severe muscle-eye-brain disease/Walker-Warburg syndrome (MEB/WWS) patients (OMIM ID of FKRP; 606596). The gene discussed is FKRP; the disease is muscle-eye-brain disease.