Authors: Burwinkel, Barbara Scott, John W. Bührer, Christoph van Landeghem, Frank K.H. Cox, Gerald F. Wilson, Callum J. Hardie, Grahame D. Kilimann, Manfred W.

Citation: Burwinkel, Barbara et al., Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the .2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficiency, American journal of human genetics , 76(6), 2005, pp. 1034-1049