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