Publication:

Unusual features in a boy with the rapsyn N88K mutation (2006)

Author(s): Skeie GO, Aurlien H, Muller JS, Lochmuller H, Norgard G, Bindoff LA

      • Date: 26-12-2006
      • Journal: Neurology
      • Volume: 67
      • Issue: 12
      • Pages: 2262-2263
      • Publisher: Lippincott Williams & Wilkins
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: Adolescent Adult Child Child, Preschool Diplopia/ diagnosis/ genetics Genetic Predisposition to Disease/genetics Humans Infant Infant, Newborn Male Muscle Proteins/ genetics Muscle Weakness/ diagnosis/ genetics Mutation

      Staff

      Professor Hanns Lochmuller
      Professor of Experimental Myology