Cardiomyopathies
|
0.500 |
Biomarker
|
group |
BEFREE |
PRKAG2 cardiac syndrome is a distinct form of human cardiomyopathy characterized by cardiac hypertrophy, ventricular pre-excitation and progressive cardiac conduction disorder.
|
29452156 |
2018 |
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We also present a clinical perspective on the major components of the cardiomyopathy associated with mutations in PRKAG2, together with less commonly described extracardiac features, its prognosis, and principles of management.
|
29480501 |
2018 |
Cardiomyopathies
|
0.500 |
Biomarker
|
group |
BEFREE |
There is little knowledge in cardiovascular magnetic resonance (CMR) characteristics of PRKAG2 cardiomyopathy.
|
28546535 |
2017 |
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
In the present study, the entire coding sequences and flanking regions of 12 major disease (cardiomyopathy)-related genes [namely myosin, heavy chain 7, cardiac muscle, β (MYH7); myosin binding protein C, cardiac (MYBPC3); lamin A/C (LMNA); troponin I type 3 (cardiac) (TNNI3); troponin T type 2 (cardiac) (TNNT2); actin, α, cardiac muscle 1 (ACTC1); tropomyosin 1 (α) (TPM1); sodium channel, voltage gated, type V alpha subunit (SCN5A); myosin, light chain 2, regulatory, cardiac, slow (MYL2); myosin, heavy chain 6, cardiac muscle, α (MYH6); myosin, light chain 3, alkali, ventricular, skeletal, slow (MYL3); and protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2)] in 8 patients with dilated cardiomyopathy (DCM) and in 8 patients with hypertrophic cardiomyopathy (HCM) were amplified and then sequenced using the Ion Torrent Personal Genome Machine (PGM) system.
|
27082122 |
2016 |
Cardiomyopathies
|
0.500 |
Biomarker
|
group |
BEFREE |
As in patients with PRKAG2 cardiomyopathy, iPS cell and mouse models are protected from cardiac fibrosis, and we define a crosstalk between AMPK and post-transcriptional regulation of TGFβ isoform signaling that has implications in fibrotic forms of cardiomyopathy.
|
28009297 |
2016 |
Cardiomyopathies
|
0.500 |
Biomarker
|
group |
BEFREE |
CMR is a valuable tool in detecting diffuse and focal myocardial abnormalities in PRKAG2 cardiomyopathy.
|
26496977 |
2015 |
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish.
|
23992123 |
2014 |
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Extensive fibrofatty replacement of the myocardium has been previously thought to be pathognomonic of ARVC; however, this report details two other forms of inherited cardiomyopathy, namely hypertrophic cardiomyopathy (HCM) and the PRKAG2 cardiac syndrome, that were found to have significant fibrofatty myocardial replacement at pathologic examination.
|
19632136 |
2011 |
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Although increased glucose uptake and activation of glycogen synthesis have been documented in PRKAG2 cardiomyopathy, the mechanism of increased glucose uptake has been uncertain.
|
20600102 |
2010 |
Cardiomyopathies
|
0.500 |
Biomarker
|
group |
LHGDN |
Reversibility of PRKAG2 glycogen-storage cardiomyopathy and electrophysiological manifestations.
|
18158359 |
2008 |
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
|
15673802 |
2005 |
Cardiomyopathies
|
0.500 |
Biomarker
|
group |
BEFREE |
Two alpha-subunit isoforms, alpha1 and alpha2, are expressed in the heart; however, the contribution of AMPK utilization of these subunits to PRKAG2 cardiomyopathy is unknown.
|
16275868 |
2005 |
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
CLINVAR |
Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
|
15673802 |
2005 |
Cardiomyopathies
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in PRKAG2 appear to specifically cause HCM with WPW and conduction disease, and not other inherited cardiomyopathies.
|
14519435 |
2003 |
Cardiomyopathies
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Mutations in the gamma2 subunit (PRKAG2) of AMP-activated protein kinase produce an unusual human cardiomyopathy characterized by ventricular hypertrophy and electrophysiological abnormalities: Wolff-Parkinson-White syndrome (WPW) and progressive degenerative conduction system disease.
|
12782567 |
2003 |
Cardiomyopathies
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|
Cardiomyopathies
|
0.500 |
CausalMutation
|
group |
CLINVAR |
|
|
|
Cardiomyopathies
|
0.500 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|