Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies

被引：2

作者：

Janin, Alexandre ^{[1
,2
,5
,12
]}

Gouy, Evan ^{[5
,6
,7
]}

Putoux, Audrey ^{[6
]}

Perouse-de-Monclos, Thomas ^{[3
]}

Chevalier, Philippe ^{[5
,8
]}

Faucherre, Adele ^{[9
]}

Mancilla Abaroa, Jourdano ^{[9
]}

Jopling, Chris ^{[9
]}

Collardeau Frachon, Sophie ^{[4
,5
]}

Radojevic, Jelena ^{[10
]}

El Chehadeh, Salima ^{[11
]}

Millat, Gilles ^{[1
,2
,5
,12
]}

机构：

[1] Hosp Civils Lyon, Lab Cardiogenet Mol, Lyon, France

[2] Hosp Civils Lyon, NGS Sequencing Platform Mol Diag, Lyon, France

[3] Hosp Civils Lyon, Cardiovasc Louis Pradel Hosp, Paediat Cardiol & Congenital Heart Dis Dept, Lyon, France

[4] Hosp Civils Lyon, Hop Femme Mere Enfant, Inst Pathol, Lyon, France

[5] Univ Lyon, Lyon, France

[6] Univ Hosp Lyon, Genet Dept, Bron, France

[7] Claude Bernard Univ Lyon, Bessereauteam, MeLiS Mech Integrated Life Sci, CNRS UMR 5284 INSERM U1314, Lyon, France

[8] Hop Cardiovasc & Pneumol Louis Pradel, Serv Rythmol, Lyon, France

[9] Univ Montpellier, Inst Funct Genom, CNRS, INSERM,LabEx ICST, Montpellier, France

[10] Serv Cardiol Congenitale, Strasbourg, France

[11] Hop Univ Strasbourg, Inst Genet Medicale Alsace IGMA, Ctr Reference Deficiences Intellectuelles Causes R, Ctr Rech Biomed Strasbourg CRBS,Serv Genet Med, Strasbourg, France

[12] Hosp Civils Lyon, Lab Cardiogenet Mol, F-69677 Bron, France

来源：

CIRCULATION-GENOMIC AND PRECISION MEDICINE | 2023年 / 16卷 / 03期

关键词：

autopsy; cardiomyopathies; child; hospitalization; infant; shock; cardiogenic;

D O I：

10.1161/CIRCGEN.122.003881

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：277 / 279

页数：3

共 5 条

[1] A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death
Chanavat, Valerie
Janin, Alexandre
Millat, Gilles
[J]. CLINICA CHIMICA ACTA, 2016, 453 : 80 - 85
[2] An Update on Pediatric Cardiomyopathy
Choudhry S.
Puri K.
Denfield S.W.
[J]. Current Treatment Options in Cardiovascular Medicine, 2019, 21 (8)
[3] Comparison of Zebrafish Larvae and hiPSC Cardiomyocytes for Predicting Drug-Induced Cardiotoxicity in Humans
Dyballa, Sylvia
Minana, Rafael
Rubio-Brotons, Maria
Cornet, Carles
Pederzani, Tiziana
Escaramis, Georgia
Garcia-Serna, Ricard
Mestres, Jordi
Terriente, Javier
[J]. TOXICOLOGICAL SCIENCES, 2019, 171 (02) : 283 - 295
[4] Identification of a gene responsible for familial Wolff-Parkinson-White syndrome
Gollob, MH
Green, MS
Tang, ASL
Gollob, T
Karibe, A
Roberts, R
Ahmad, F
Lozado, R
Shah, G
Fananapazir, L
Bachinski, LL
Roberts, R
Tapscott, T
Gonzales, O
Begley, D
Mohiddin, S
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 2001, 344 (24) : 1823 - 1831
[5] A simple and effective F0 knockout method for rapid screening of behaviour and other complex phenotypes
Kroll, Francois
Powell, Gareth T.
Ghosh, Marcus
Gestri, Gaia
Antinucci, Paride
Hearn, Timothy J.
Tunbak, Hande
Lim, Sumi
Dennis, Harvey W.
Fernandez, Joseph M.
Whitmore, David
Dreosti, Elena
Wilson, Stephen W.
Hoffman, Ellen J.
Rihel, Jason
[J]. ELIFE, 2021, 10 : 1 - 34

← 1 →