RYR1 mutations are a common cause of congenital myopathies with central nuclei (2010)

Author(s): Wilmshurst J, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller C, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling J, Al-Sarraj S, Treves S, Abbs S, Manzur A, Sewry C, Muntoni F, Jungbluth H

      • Journal: Annals of Neurology
      • Volume: 68
      • Issue: 5
      • Pages: 717-726
      • Publisher: John Wiley & Sons, Inc.
      • Publication type: Article
      • Bibliographic status: Published

      Professor Volker Straub
      Harold Macmillan Professor of Medicine