Mutations in the FKRP gene cause congenital muscular dystrophy 1 C, mental retardation and cerebellar cysts. - Topaloglu,H.; Brockington,M.; Yuva,Y.; Talim,B.; Haliloglu,G.; Blake,D.; Torelli,S.; Brown,S.; Muntoni,F. (Neurology, 2003)