Associated Papers
When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review.
Micaglio E et al.
International Journal of Molecular Sciences, 2024
Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.
Gong X et al.
Molecular Genetics & Genomic Medicine, 2022
Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort.
Ahamed H et al.
Scientific Reports, 2020
Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease.
Hu D et al.
Ebiomedicine, 2020
Human γ2-AMPK Mutations.
Yavari A et al.
Methods in Molecular Biology (clifton, N.j.), 2018
Molecular Pathogenesis of Familial Wolff-Parkinson-White Syndrome.
Miyamoto L
The Journal of Medical Investigation : Jmi, 2018
A novel, de novo mutation in the PRKAG2 gene: infantile-onset phenotype and the signaling pathway involved.
Xu Y et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2017
A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation.
Yang KQ et al.
Scientific Reports, 2017
Clinical Spectrum of PRKAG2 Syndrome.
Porto AG et al.
Circulation. Arrhythmia and Electrophysiology, 2016
Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure.
Liu Y et al.
Plos One, 2013
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