Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
J. Clin. Invest. Michael Arad, et al. 109:357 doi:10.1172/JCI14571 [Go to this article.]

Figure 1
Identification of three PRKAG2 mutations inherited in six families and the clinical consequences of these mutations. (a) Pedigrees indicate clinical findings of cardiac hypertrophy (left half filled), WPW (right upper quadrant filled), or conduction system disease (right lower quadrant filled) in individuals with a PRKAG2 mutation (+). Open symbols denote unaffected individuals, and shading denotes uncertain clinical status. (b) Sequence traces demonstrating G995A substitution (exon 7), C1289A (exon 11), and A1553T (exon 14), encoding Arg302Gln, Thr400Asn, and Asn488Ile substitutions, respectively. (c) Comparison of PRKAG protein sequences demonstrates evolutionary conservation of residues altered by mutation. Note that human PRKAG2 Arg302Gln mutation is homologous to R200Q mutation in RN^– pigs.