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

Jan Senderek, Michael Krieger, Claudia Stendel, Carsten Bergmann, Markus Moser, Nico Breitbach-Faller, Sabine Rudnik-Schöneborn, Astrid Blaschek, Nicole I Wolf, Inga Harting, Kathryn North, Janine Smith, Francesco Muntoni, Martin Brockington, Susana Quijano-Roy, Francis Renault, Ralf Herrmann, Linda M Hendershot, J Michael Schröder, Hanns Lochmüller, Haluk Topaloglu, Thomas Voit, Joachim Weis, Friedrich Ebinger, Klaus Zerres
  • Nature Genetics, November 2005, Nature Publishing Group
  • DOI: 10.1038/ng1678
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The following have contributed to this page: Dr Nicole I Wolf