Novel PRKAG2 Mutation Responsible for the Genetic Syndrome of Ventricular Preexcitation and Conduction System Disease With Childhood Onset and Absence of Cardiac Hypertrophy
- 17 December 2001
- journal article
- case report
- Published by Wolters Kluwer Health in Cell Metabolism
- Vol. 104 (25), 3030-3033
- https://doi.org/10.1161/hc5001.102111
Abstract
Background— We recently reported a mutation in the PRKAG2 gene to be responsible for a familial syndrome of ventricular preexcitation, atrial fibrillation, conduction defects, and cardiac hypertrop...Keywords
This publication has 11 references indexed in Scilit:
- Identification of a Gene Responsible for Familial Wolff–Parkinson–White SyndromeNew England Journal of Medicine, 2001
- Mutations in the gamma2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesisHuman Molecular Genetics, 2001
- Molecular Cloning, Genomic Organization, and Mapping of PRKAG2, a Heart Abundant γ2 Subunit of 5′-AMP-Activated Protein Kinase, to Human Chromosome 7q36Genomics, 2000
- Inhibition of cystic fibrosis transmembrane conductance regulator by novel interaction with the metabolic sensor AMP-activated protein kinaseJCI Insight, 2000
- Characterization of AMP-activated protein kinase γ-subunit isoforms and their role in AMP bindingBiochemical Journal, 2000
- AMP‐activated protein kinase phosphorylation of endothelial NO synthaseFEBS Letters, 1999
- The 5′‐AMP‐activated protein kinase inhibits the transcriptional stimulation by glucose in liver cells, acting through the glucose response complexFEBS Letters, 1998
- Congenital Heart Disease Caused by Mutations in the Transcription Factor NKX2-5Science, 1998
- Elevated blood pressures in mice lacking endothelial nitric oxide synthaseProceedings of the National Academy of Sciences, 1996
- Paroxysmal atrial fibrillation in the wolff-parkinson-white syndromeThe American Journal of Cardiology, 1981