Publication:

Analysis of spectrum and frequencies of mutations in McArdle disease (2007)

Author(s): Deschauer M, Morgenroth A, Joshi PR, Glaser D, Chinnery PF, Aasly J, Schreiber H, Knape M, Zierz S, Vorgerd M

      • Date: 03-04-2007
      • Journal: Journal of Neurology
      • Volume: 254
      • Issue: 6
      • Pages: 797-802
      • Publisher: Dr. Dietrich Steinkopff Verlag
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: genetic testing McArdle disease mutations myophosphorylase deficiency MYOPHOSPHORYLASE DEFICIENCY GLYCOGEN-PHOSPHORYLASE NONSENSE MUTATION PYGM GENE HETEROGENEITY EXON-17 PATIENT

      Staff

      Professor Patrick Chinnery
      Institute Director