Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K.
Senderek J, et al. Among authors: wolf ni.
Nat Genet. 2005 Dec;37(12):1312-4. doi: 10.1038/ng1678. Epub 2005 Nov 13.
Nat Genet. 2005.
PMID: 16282977