Publication:

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