Publication:

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome (2004)

Author(s): Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F

      • Date: 01-05-2004
      • Journal: Journal of Medical Genetics
      • Volume: 41
      • Issue: 5
      • Pages: e61
      • Publication type: Letter
      • Bibliographic status: Published

      Keywords: Brain/ abnormalities/pathology Child Eye Abnormalities/ genetics Female Genetic Predisposition to Disease Humans Infant, Newborn Magnetic Resonance Imaging Male Muscle, Skeletal Muscular Dystrophies/diagnosis/ genetics Mutation, Missense Proteins/ genetics Syndrome

      Staff

      Professor Volker Straub
      Harold Macmillan Professor of Medicine