Associated Papers
PRKAG2 -Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review.
White-Brown AM et al.
American Journal of Medical Genetics. Part A, 2025
Severe Hypertrophic Cardiomyopathy Caused by a Protein Kinase Adenosine Monophosphate-Activated Non-catalytic Subunit Gamma 2 (PRKAG2) Mutation With Refractory Chylous Effusions in a Neonate: A Case Report and Literature Review.
Minamitani Y et al.
Cureus, 2024
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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis.
Gorla SR et al.
Journal of Pediatric Genetics, 2018
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
PRKAG2 mutations presenting in infancy.
Torok RD et al.
Journal of Inherited Metabolic Disease, 2017
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
The PRKAG2 gene and hypertrophic cardiomyopathy: an energetically imbalanced relationship.
Calore M
American Journal of Physiology. Heart and Circulatory Physiology, 2017
Neuromuscular disorders of glycogen metabolism.
Gazzerro E et al.
Current Neurology and Neuroscience Reports, 2013
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
Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain.
Dimauro S et al.
Seminars in Fetal & Neonatal Medicine, 2011
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
Akman HO et al.
Pediatric Research, 2007