Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion (2010)

Author(s): Clarke N, Waddell L, Cooper S, Perry M, Smith R, Kornberg A, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King M, Farrell M, Marty I, Lunardi J, Monnier N, North K

      • Journal: Human Mutation
      • Volume: 31
      • Issue: 7
      • Pages: E1544-E1550
      • Publisher: John Wiley & Sons, Inc.
      • Publication type: Article
      • Bibliographic status: Published

      Professor Katherine Bushby
      Act. Res.Chair of Neuromuscular Genetics

      Professor Volker Straub
      Harold Macmillan Professor of Medicine