|
Glycogen Storage Disease of Heart, Lethal Congenital
|
|
0.800 |
CausalMutation
|
CLINVAR |
Physiological Expression of AMPKγ2RG Mutation Causes Wolff-Parkinson-White Syndrome and Induces Kidney Injury in Mice.
|
27621313 |
2016 |
|
Glycogen Storage Disease of Heart, Lethal Congenital
|
|
0.800 |
CausalMutation
|
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
|
Glycogen Storage Disease of Heart, Lethal Congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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.
|
15877279 |
2005 |
|
Glycogen Storage Disease of Heart, Lethal Congenital
|
|
0.800 |
CausalMutation
|
CLINVAR |
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.
|
15877279 |
2005 |
|
Glycogen Storage Disease of Heart, Lethal Congenital
|
|
0.800 |
CausalMutation
|
CLINVAR |
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
|
14722619 |
2004 |
|
Glycogen Storage Disease of Heart, Lethal Congenital
|
|
0.800 |
CausalMutation
|
CLINVAR |
Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy.
|
11748095 |
2001 |
|
Glycogen Storage Disease of Heart, Lethal Congenital
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
GeneticVariation
|
BEFREE |
The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) in three infants with congenital hypertrophic cardiomyopathy, glycogen storage, and "pseudo PHK deficiency" prompted us to screen this gene in our patient.
|
17667862 |
2007 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
GeneticVariation
|
BEFREE |
Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a massive nonlysosomal cardiac glycogenosis of fetal symptomatic onset and rapidly fatal course, constituting a genotypically and clinically distinct variant of hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome.
|
15877279 |
2005 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
CausalMutation
|
CLINVAR |
Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a massive nonlysosomal cardiac glycogenosis of fetal symptomatic onset and rapidly fatal course, constituting a genotypically and clinically distinct variant of hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome.
|
15877279 |
2005 |
|
Hypertrophic Cardiomyopathy
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.
|
14519435 |
2003 |
|
Glycogen storage disease, type IX
|
|
0.020 |
GeneticVariation
|
BEFREE |
The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) in three infants with congenital hypertrophic cardiomyopathy, glycogen storage, and "pseudo PHK deficiency" prompted us to screen this gene in our patient.
|
17667862 |
2007 |
|
Hypertrophic obstructive cardiomyopathy
|
|
0.020 |
GeneticVariation
|
BEFREE |
The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) in three infants with congenital hypertrophic cardiomyopathy, glycogen storage, and "pseudo PHK deficiency" prompted us to screen this gene in our patient.
|
17667862 |
2007 |
|
Hypertrophic obstructive cardiomyopathy
|
|
0.020 |
GeneticVariation
|
BEFREE |
Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a massive nonlysosomal cardiac glycogenosis of fetal symptomatic onset and rapidly fatal course, constituting a genotypically and clinically distinct variant of hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome.
|
15877279 |
2005 |
|
Glycogen storage disease, type IX
|
|
0.020 |
GeneticVariation
|
BEFREE |
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.
|
15877279 |
2005 |
|
Deficiency of phosphorylase kinase
|
|
0.010 |
GeneticVariation
|
BEFREE |
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.
|
15877279 |
2005 |
|
Wolff-Parkinson-White Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a massive nonlysosomal cardiac glycogenosis of fetal symptomatic onset and rapidly fatal course, constituting a genotypically and clinically distinct variant of hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome.
|
15877279 |
2005 |