A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy (2011)

Author(s): Sarkozy A; Straub V; Hicks D; Lochmuller H; Bushby K; Laval SH; Chinnery PF; Polvikoski T; Hudson G; Barresi R; Miller J; Eagle M; Muelas N; Koehler K; Huebner A; Bailey G; Radunovic A; Hughes PJ; Roberts R; Krause S; Walter MC

      • Date: 29-30 March 2011
      • Conference Name: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference
      • Volume: 21 (s1)
      • Pages: S24-S25
      • Publisher: Elsevier Ltd
      • Publication type: Conference Proceedings (inc. abstract)
      • Bibliographic status: Published



        Professor Patrick Chinnery
        Wellcome Senior Fellow in Clinical Science and Professor of Neurogenetics