Condition: Glycogen Storage Disease of Heart, Lethal Congenital
rs121908987 in
PRKAG2 gene and
Glycogen Storage Disease of Heart, Lethal Congenital
PMID 25997934 2015 Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family.
PMID 23992123 2014 Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish.
PMID 20031621 2009 Distinct early signaling events resulting from the expression of the PRKAG2 R302Q mutant of AMPK contribute to increased myocardial glycogen.
PMID 14722619 2004 CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
PMID 15611370 2005 Transgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome.
PMID 16836667 2006 Familial pseudo-Wolff-Parkinson-White syndrome.
PMID 27621313 2016 Physiological Expression of AMPKγ2RG Mutation Causes Wolff-Parkinson-White Syndrome and Induces Kidney Injury in Mice.
PMID 15877279 2005 Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
PMID 11748095 2001 Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy.
PMID 26085771 2015 PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis.
PMID 27573176 2016 Genome editing with CRISPR/Cas9 in postnatal mice corrects PRKAG2 cardiac syndrome.
PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.