Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy

J Senderek, M Krieger, C Stendel, K North, F Muntoni, S Quijano-Roy, F Ebinger, JM Schroder, T Voit, J Weis, H Topaloglu, K Zerres