Titin mutation segregates with hereditary myopathy with early respiratory failure (2012)

Author(s): Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF

      • Date: 09-05-2012
      • Journal: Brain
      • Volume: 135
      • Issue: 6
      • Pages: 1695-1713
      • Publisher: Oxford University Press
      • Publication type: Article
      • Bibliographic status: Published

      Dr Rita Barresi
      Honorary Senior Lecturer

      Professor Patrick Chinnery
      Institute Director

      Dr Helen Griffin
      Research Associate

      Dr Mauro Santibanez Koref
      Senior Lecturer

      Professor Volker Straub
      Harold Macmillan Professor of Medicine