Work

Clinical Spectrum of PRKAG2 Syndrome

Year: 2016

Type: article

Abstract: PRKAG2 MutationsPRKAG2 mutation inheritance pattern is autosomal dominant.Almost all studies report missense mutations. 5,[7][8]][9][10][11][12][13][14][15][16][17][18][19][20][21] Only Blair et al 8 documented an insertion mutation (Exon 5:InsLeu).The most commonly reported mutation were C.905G>A

Source: Circulation Arrhythmia and Electrophysiology

DOI: 10.1161/circep.115.003121

Authors: Andrea Giuseppe Porto, Francesca Brun, Giovanni Maria Severini, Pasquale Losurdo, Enrico Fabris, Matthew R.G. Taylor, Luisa Mestroni, Gianfranco Sinagra

Institutions: University of Trieste, IRCCS Materno Infantile Burlo Garofolo, Azienda Sanitaria Universitaria Integrata di Trieste, University of Colorado Denver, University of Colorado Anschutz

Language: English

Topic: Cardiac electrophysiology and arrhythmias

Subfield: Cardiology and Cardiovascular Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Fondation Leducq, National Institutes of Health, U.S. Public Health Service, National Heart, Lung, and Blood Institute, National Center for Research Resources, National Center for Advancing Translational Sciences

Awards: Whole genome DNA sequencing to identify novel genes in dilated cardiomyopathy, Genetics, Mechanisms and Clinical Phenotypes of Arrhythmogenic Cardiomyopathy, Cardiomyocyte phenotype and mechanotransduction in Filamin C gene variants causing arrhythmogenic cardiomyopathy, G5584656526, Colorado Clinical and Translational Sciences Institute, Familial Dilated Cardiomyopathy:Genetic Characterization, Molecular Epidemiology of Dilated Cardiomyopath, Colorado Clinical and Translational Science Institute (UL1)

OpenAlex ID: W2228233311

FWCI: 6.82

Cites: 47

Cited by: 155

Related to: 10