Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome
D Beltran-Valero de Bernabé, T Voit, C Longman, A Steinbrecher, V Straub, Y Yuva, R Herrmann, J Sperner, C Korenke, C Diesen, W B Dobyns, H G Brunner, H van Bokhoven, M Brockington, F Muntoni
Journal of Medical Genetics May 2004, 41 (5) e61; DOI: 10.1136/jmg.2003.013870