High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Identifieur interne : 000272 ( Main/Merge ); précédent : 000271; suivant : 000273High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Auteurs : Julien Thevenon [France] ; Gabriel Laurent [France] ; Flavie Ader [France] ; Pascal Laforêt [France] ; Didier Klug [France] ; Anju Duva Pentiah [France] ; Laurent Gouya [France] ; Claude Alain Maurage [France] ; Salem Kacet [France] ; Jean-Christophe Eicher [France] ; Juliette Albuisson [France] ; Michel Desnos [France] ; Eric Bieth [France] ; Denis Duboc [France] ; Laurent Martin [France] ; Patricia Réant [France] ; François Picard [France] ; Claire Bonithon-Kopp [France] ; Elodie Gautier [France] ; Christine Binquet [France] ; Christel Thauvin-Robinet [France] ; Laurence Faivre [France] ; Patrice Bouvagnet [France] ; Philippe Charron [France] ; Pascale Richard [France]Source :
- Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology [ 1532-2092 ] ; 2016.
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Abstract
Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospective time-to-event study of the clinical manifestations associated with PRKAG2 mutations.
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DOI: 10.1093/europace/euw067
PubMed: 27189955
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université Paris-5, Paris 75015</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Bieth, Eric" sort="Bieth, Eric" uniqKey="Bieth E" first="Eric" last="Bieth">Eric Bieth</name><affiliation wicri:level="3"><nlm:affiliation>Department of Medical Genetics, Hôpital Purpan, Toulouse, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, Hôpital Purpan, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Duboc, Denis" sort="Duboc, Denis" uniqKey="Duboc D" first="Denis" last="Duboc">Denis Duboc</name><affiliation wicri:level="3"><nlm:affiliation>AP-HP, Service de Cardiologie, Hôpital Cochin, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Service de Cardiologie, Hôpital Cochin, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Martin, Laurent" sort="Martin, Laurent" uniqKey="Martin L" first="Laurent" last="Martin">Laurent Martin</name><affiliation wicri:level="3"><nlm:affiliation>Laboratoire d'anatomopathologie, Plateau technique de Biologie, CHU de Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire d'anatomopathologie, Plateau technique de Biologie, CHU de Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Reant, Patricia" sort="Reant, Patricia" uniqKey="Reant P" first="Patricia" last="Réant">Patricia Réant</name><affiliation wicri:level="1"><nlm:affiliation>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac</wicri:regionArea><wicri:noRegion>Pessac</wicri:noRegion><wicri:noRegion>Pessac</wicri:noRegion></affiliation></author><author><name sortKey="Picard, Francois" sort="Picard, Francois" uniqKey="Picard F" first="François" last="Picard">François Picard</name><affiliation wicri:level="1"><nlm:affiliation>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac</wicri:regionArea><wicri:noRegion>Pessac</wicri:noRegion><wicri:noRegion>Pessac</wicri:noRegion></affiliation></author><author><name sortKey="Bonithon Kopp, Claire" sort="Bonithon Kopp, Claire" 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cliniques, CHU, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Binquet, Christine" sort="Binquet, Christine" uniqKey="Binquet C" first="Christine" last="Binquet">Christine Binquet</name><affiliation wicri:level="3"><nlm:affiliation>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Thauvin Robinet, Christel" sort="Thauvin Robinet, Christel" uniqKey="Thauvin Robinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Bouvagnet, Patrice" sort="Bouvagnet, Patrice" uniqKey="Bouvagnet P" first="Patrice" last="Bouvagnet">Patrice Bouvagnet</name><affiliation wicri:level="3"><nlm:affiliation>Service médico-chirurgical Cardiologie Pédiatrique et Congénitale Adulte, Laboratoire Cardiogénétique, CHU de Lyon HCL-GH Est-Hôpital Louis Pradel, 69677 BRON CEDEX, et EA4173 Université Lyon 1 et Hôpital du Nord-Ouest, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service médico-chirurgical Cardiologie Pédiatrique et Congénitale Adulte, 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Ambroise Paré, Boulogne-Billancourt, Université de Versailles Saint Quentin en Yvelines, Paris, France AP-HP, Centre de référence des maladies cardiaques héréditaires, Inserm UMRS1166, Hôpital de la Pitié-Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université de Versailles-Saint-Quentin-en-Yvelines</orgName></affiliation></author><author><name sortKey="Richard, Pascale" sort="Richard, Pascale" uniqKey="Richard P" first="Pascale" last="Richard">Pascale Richard</name><affiliation wicri:level="3"><nlm:affiliation>AP-HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière 47-83 boulevard de l'Hôpital, Paris cedex 13 75651, France AP-HP, Centre de référence des maladies cardiaques héréditaires, Inserm UMRS1166, Hôpital de la Pitié-Salpêtrière, Paris, France 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type="wicri:Area/Main/Merge">000272</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.</title><author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Laurent, Gabriel" sort="Laurent, Gabriel" uniqKey="Laurent G" first="Gabriel" last="Laurent">Gabriel Laurent</name><affiliation wicri:level="3"><nlm:affiliation>Service de Rythmologie et Insuffisance Cardiaque, Hôpital du Bocage, Centre Hospitalo-Universitaire de Dijon, Dijon, France Laboratoire LE2I UMR CNRS 5158, Université de Bourgogne, 9 avenue Alain Savary, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Rythmologie et Insuffisance Cardiaque, Hôpital du Bocage, Centre Hospitalo-Universitaire de Dijon, Dijon, France Laboratoire LE2I UMR CNRS 5158, Université de Bourgogne, 9 avenue Alain Savary, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Ader, Flavie" sort="Ader, Flavie" uniqKey="Ader F" first="Flavie" last="Ader">Flavie Ader</name><affiliation wicri:level="3"><nlm:affiliation>AP-HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière 47-83 boulevard de l'Hôpital, Paris cedex 13 75651, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière 47-83 boulevard de l'Hôpital, Paris cedex 13 75651</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Laforet, Pascal" sort="Laforet, Pascal" uniqKey="Laforet P" first="Pascal" last="Laforêt">Pascal Laforêt</name><affiliation wicri:level="3"><nlm:affiliation>AP-HP, Centre de Référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Centre de Référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Klug, Didier" sort="Klug, Didier" uniqKey="Klug D" first="Didier" last="Klug">Didier Klug</name><affiliation wicri:level="3"><nlm:affiliation>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille</wicri:regionArea><placeName><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Duva Pentiah, Anju" sort="Duva Pentiah, Anju" uniqKey="Duva Pentiah A" first="Anju" last="Duva Pentiah">Anju Duva Pentiah</name><affiliation wicri:level="3"><nlm:affiliation>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille</wicri:regionArea><placeName><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Gouya, Laurent" sort="Gouya, Laurent" uniqKey="Gouya L" first="Laurent" last="Gouya">Laurent Gouya</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U773, Centre de Recherche Biomédicale Bichat Beaujon CRB3, Université Paris 7 Denis Diderot, site Bichat, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U773, Centre de Recherche Biomédicale Bichat Beaujon CRB3, Université Paris 7 Denis Diderot, site Bichat, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Maurage, Claude Alain" sort="Maurage, Claude Alain" uniqKey="Maurage C" first="Claude Alain" last="Maurage">Claude Alain Maurage</name><affiliation wicri:level="3"><nlm:affiliation>Université Lille Nord de France, USDL, EA 1056, Lille F-59000, France Département de Pathologie, Hôpital Universitaire de Lille, Lille F-59000, France INSERM U837, Lille F-59000, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Lille Nord de France, USDL, EA 1056, Lille F-59000, France Département de Pathologie, Hôpital Universitaire de Lille, Lille F-59000, France INSERM U837, Lille F-59000</wicri:regionArea><placeName><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName></affiliation></author><author><name sortKey="Kacet, Salem" sort="Kacet, Salem" uniqKey="Kacet S" first="Salem" last="Kacet">Salem Kacet</name><affiliation wicri:level="3"><nlm:affiliation>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille</wicri:regionArea><placeName><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Eicher, Jean Christophe" sort="Eicher, Jean Christophe" uniqKey="Eicher J" first="Jean-Christophe" last="Eicher">Jean-Christophe Eicher</name><affiliation wicri:level="3"><nlm:affiliation>Service de Rythmologie et Insuffisance Cardiaque, Hôpital du Bocage, Centre Hospitalo-Universitaire de Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Rythmologie et Insuffisance Cardiaque, Hôpital du Bocage, Centre Hospitalo-Universitaire de Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Albuisson, Juliette" sort="Albuisson, Juliette" uniqKey="Albuisson J" first="Juliette" last="Albuisson">Juliette Albuisson</name><affiliation wicri:level="3"><nlm:affiliation>INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France AP-HP, Département de génétique, Hôpital européen Georges-Pompidou, 20, rue Leblanc, Paris 75015, France Inserm U 633, faculté de médecine, université Paris-5, Paris 75015, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France AP-HP, Département de génétique, Hôpital européen Georges-Pompidou, 20, rue Leblanc, Paris 75015, France Inserm U 633, faculté de médecine, université Paris-5, Paris 75015</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Desnos, Michel" sort="Desnos, Michel" uniqKey="Desnos M" first="Michel" last="Desnos">Michel Desnos</name><affiliation wicri:level="3"><nlm:affiliation>INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France AP-HP, Département de génétique, Hôpital européen Georges-Pompidou, 20, rue Leblanc, Paris 75015, France Inserm U 633, faculté de médecine, université Paris-5, Paris 75015, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France AP-HP, Département de génétique, Hôpital européen Georges-Pompidou, 20, rue Leblanc, Paris 75015, France Inserm U 633, faculté de médecine, université Paris-5, Paris 75015</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Bieth, Eric" sort="Bieth, Eric" uniqKey="Bieth E" first="Eric" last="Bieth">Eric Bieth</name><affiliation wicri:level="3"><nlm:affiliation>Department of Medical Genetics, Hôpital Purpan, Toulouse, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, Hôpital Purpan, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Duboc, Denis" sort="Duboc, Denis" uniqKey="Duboc D" first="Denis" last="Duboc">Denis Duboc</name><affiliation wicri:level="3"><nlm:affiliation>AP-HP, Service de Cardiologie, Hôpital Cochin, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Service de Cardiologie, Hôpital Cochin, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Martin, Laurent" sort="Martin, Laurent" uniqKey="Martin L" first="Laurent" last="Martin">Laurent Martin</name><affiliation wicri:level="3"><nlm:affiliation>Laboratoire d'anatomopathologie, Plateau technique de Biologie, CHU de Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire d'anatomopathologie, Plateau technique de Biologie, CHU de Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Reant, Patricia" sort="Reant, Patricia" uniqKey="Reant P" first="Patricia" last="Réant">Patricia Réant</name><affiliation wicri:level="1"><nlm:affiliation>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac</wicri:regionArea><wicri:noRegion>Pessac</wicri:noRegion><wicri:noRegion>Pessac</wicri:noRegion></affiliation></author><author><name sortKey="Picard, Francois" sort="Picard, Francois" uniqKey="Picard F" first="François" last="Picard">François Picard</name><affiliation wicri:level="1"><nlm:affiliation>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac</wicri:regionArea><wicri:noRegion>Pessac</wicri:noRegion><wicri:noRegion>Pessac</wicri:noRegion></affiliation></author><author><name sortKey="Bonithon Kopp, Claire" sort="Bonithon Kopp, Claire" uniqKey="Bonithon Kopp C" first="Claire" last="Bonithon-Kopp">Claire Bonithon-Kopp</name><affiliation wicri:level="3"><nlm:affiliation>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Gautier, Elodie" sort="Gautier, Elodie" uniqKey="Gautier E" first="Elodie" last="Gautier">Elodie Gautier</name><affiliation wicri:level="3"><nlm:affiliation>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Binquet, Christine" sort="Binquet, Christine" uniqKey="Binquet C" first="Christine" last="Binquet">Christine Binquet</name><affiliation wicri:level="3"><nlm:affiliation>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Thauvin Robinet, Christel" sort="Thauvin Robinet, Christel" uniqKey="Thauvin Robinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Bouvagnet, Patrice" sort="Bouvagnet, Patrice" uniqKey="Bouvagnet P" first="Patrice" last="Bouvagnet">Patrice Bouvagnet</name><affiliation wicri:level="3"><nlm:affiliation>Service médico-chirurgical Cardiologie Pédiatrique et Congénitale Adulte, Laboratoire Cardiogénétique, CHU de Lyon HCL-GH Est-Hôpital Louis Pradel, 69677 BRON CEDEX, et EA4173 Université Lyon 1 et Hôpital du Nord-Ouest, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service médico-chirurgical Cardiologie Pédiatrique et Congénitale Adulte, Laboratoire Cardiogénétique, CHU de Lyon HCL-GH Est-Hôpital Louis Pradel, 69677 BRON CEDEX, et EA4173 Université Lyon 1 et Hôpital du Nord-Ouest, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Charron, Philippe" sort="Charron, Philippe" uniqKey="Charron P" first="Philippe" last="Charron">Philippe Charron</name><affiliation wicri:level="4"><nlm:affiliation>AP-HP, Centre de référence des maladies cardiaques héréditaires, Hôpital Ambroise Paré, Boulogne-Billancourt, Université de Versailles Saint Quentin en Yvelines, Paris, France AP-HP, Centre de référence des maladies cardiaques héréditaires, Inserm UMRS1166, Hôpital de la Pitié-Salpêtrière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Centre de référence des maladies cardiaques héréditaires, Hôpital Ambroise Paré, Boulogne-Billancourt, Université de Versailles Saint Quentin en Yvelines, Paris, France AP-HP, Centre de référence des maladies cardiaques héréditaires, Inserm UMRS1166, Hôpital de la Pitié-Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université de Versailles-Saint-Quentin-en-Yvelines</orgName></affiliation></author><author><name sortKey="Richard, Pascale" sort="Richard, Pascale" uniqKey="Richard P" first="Pascale" last="Richard">Pascale Richard</name><affiliation wicri:level="3"><nlm:affiliation>AP-HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière 47-83 boulevard de l'Hôpital, Paris cedex 13 75651, France AP-HP, Centre de référence des maladies cardiaques héréditaires, Inserm UMRS1166, Hôpital de la Pitié-Salpêtrière, Paris, France pascale.richard@aphp.fr.</nlm:affiliation><country wicri:rule="url">France</country><wicri:regionArea>AP-HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière 47-83 boulevard de l'Hôpital, Paris cedex 13 75651, France AP-HP, Centre de référence des maladies cardiaques héréditaires, Inserm UMRS1166, Hôpital de la Pitié-Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><series><title level="j">Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology</title><idno type="eISSN">1532-2092</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="mix" xml:lang="en"><term>Cardiomyopathy</term><term>PRKAG2</term><term>Time-to-event study</term><term>Ventricular pre-excitation</term><term>Wolff–Parkinson–White</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospective time-to-event study of the clinical manifestations associated with PRKAG2 mutations.</div></front></TEI><double doi="10.1093/europace/euw067"><HAL><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations</title><author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-157792" status="VALID"> <orgName>Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)</orgName> <desc> <address> <addrLine>CHU de Dijon - 14 rue Paul Gaffarel - BP 77908 - 21079 DIJON Cedex</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.chu-dijon.fr/fr/service/centre-genetique-centre-reference-maladies-rares-anomalies-developpement-syndromes</ref> </desc> <listRelation> <relation active="#struct-300924" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-300924" type="direct"><org type="institution" xml:id="struct-300924" status="VALID"> <orgName>Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand</orgName> <orgName type="acronym">CHU Dijon</orgName> <desc> <address> <addrLine>CHU Dijon - 14 rue Paul Gaffarel - 21079 Dijon</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.chu-dijon.fr/fr</ref> </desc></org></tutelle></tutelles></hal:affiliation><country>France</country></affiliation></author><author><name sortKey="Laurent, Gabriel" sort="Laurent, Gabriel" uniqKey="Laurent G" first="Gabriel" last="Laurent">Gabriel Laurent</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-22594" status="VALID"> <orgName>Laboratoire Electronique, Informatique et Image</orgName> <orgName type="acronym">Le2i</orgName> <desc> <address> <addrLine>Université de Bourgogne - Laboratoire Le2i - UFR Sciences et Techniques - BP 47870 - 21078 DIJON CEDEX</addrLine> <country key="FR"></country> </address> <ref type="url">http://le2i.cnrs.fr</ref> </desc> <listRelation> <relation active="#struct-300270" type="direct"></relation> <relation active="#struct-300062" type="direct"></relation> <relation name="UMR6306" active="#struct-441569" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-300270" type="direct"><org type="institution" xml:id="struct-300270" status="VALID"> <orgName>Université de Bourgogne</orgName> <orgName type="acronym">UB</orgName> <desc> <address> <addrLine>Maison de l'université - Esplanade Érasme - BP 27877 - 21078 Dijon cedex</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.u-bourgogne.fr/</ref> </desc></org></tutelle><tutelle active="#struct-300062" type="direct"><org type="institution" xml:id="struct-300062" status="VALID"> <orgName>Arts et Métiers ParisTech</orgName> <desc> <address> <country key="FR"></country> </address> </desc></org></tutelle><tutelle name="UMR6306" active="#struct-441569" type="direct"><org type="institution" xml:id="struct-441569" status="VALID"> <idno type="IdRef">02636817X</idno> <idno type="ISNI">0000000122597504</idno> <orgName>Centre National de la Recherche Scientifique</orgName> <orgName type="acronym">CNRS</orgName> <date type="start">1939-10-19</date> <desc> <address> <country key="FR"></country> </address> <ref type="url">http://www.cnrs.fr/</ref> </desc></org></tutelle></tutelles></hal:affiliation><country>France</country><placeName><settlement type="city">Dijon</settlement><region type="region" nuts="2">Région Bourgogne</region></placeName><orgName type="university">Université de Bourgogne</orgName><orgName type="institution" wicri:auto="newGroup">Université de Bourgogne Franche-Comté</orgName></affiliation></author><author><name sortKey="Ader, Flavie" sort="Ader, Flavie" uniqKey="Ader F" first="Flavie" last="Ader">Flavie Ader</name><affiliation wicri:level="1"><hal:affiliation type="institution" xml:id="struct-353778" status="VALID"> <orgName>CHU Pitié-Salpêtrière [APHP]</orgName> <desc> <address> <addrLine>47-83 Boulevard de l'Hôpital, 75013 Paris</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.aphp.fr/contenu/hopital-universitaire-pitie-salpetriere-0</ref> </desc></hal:affiliation><country>France</country></affiliation></author><author><name sortKey="Laforet, Pascal" sort="Laforet, Pascal" uniqKey="Laforet P" first="Pascal" last="Laforêt">Pascal Laforêt</name><affiliation wicri:level="1"><hal:affiliation type="institution" xml:id="struct-353778" status="VALID"> <orgName>CHU Pitié-Salpêtrière [APHP]</orgName> <desc> <address> <addrLine>47-83 Boulevard de l'Hôpital, 75013 Paris</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.aphp.fr/contenu/hopital-universitaire-pitie-salpetriere-0</ref> </desc></hal:affiliation><country>France</country></affiliation></author><author><name sortKey="Klug, Didier" sort="Klug, Didier" uniqKey="Klug D" first="Didier" last="Klug">Didier Klug</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-18639" status="VALID"> <orgName>Hôpital cardiologique</orgName> <desc> <address> <addrLine>Place de Verdun, 59037 Lille cedex</addrLine> <country key="FR"></country> </address> </desc> <listRelation> <relation active="#struct-361611" type="direct"></relation> <relation active="#struct-425779" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-361611" type="direct"><org type="institution" xml:id="struct-361611" status="VALID"> <idno type="IdRef">026404389</idno> <orgName>Université de Lille, Droit et Santé</orgName> <desc> <address> <addrLine>42 rue Paul Duez 59000 Lille</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.univ-lille2.fr/</ref> </desc></org></tutelle><tutelle active="#struct-425779" type="direct"><org type="institution" xml:id="struct-425779" status="VALID"> <orgName>Centre Hospitalier Régional Universitaire [Lille]</orgName> <orgName type="acronym">CHRU Lille</orgName> <desc> <address> <addrLine>2, avenue Oscar Lambret - 59037 Lille Cedex</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.chru-lille.fr/</ref> </desc></org></tutelle></tutelles></hal:affiliation><country>France</country></affiliation></author><author><name sortKey="Duva Pentiah, Anju" sort="Duva Pentiah, Anju" uniqKey="Duva Pentiah A" first="Anju" last="Duva Pentiah">Anju Duva Pentiah</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-18639" status="VALID"> <orgName>Hôpital cardiologique</orgName> <desc> <address> <addrLine>Place de Verdun, 59037 Lille cedex</addrLine> <country key="FR"></country> </address> </desc> <listRelation> <relation active="#struct-361611" type="direct"></relation> <relation active="#struct-425779" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-361611" type="direct"><org type="institution" xml:id="struct-361611" status="VALID"> <idno type="IdRef">026404389</idno> <orgName>Université de Lille, Droit et Santé</orgName> <desc> <address> <addrLine>42 rue Paul Duez 59000 Lille</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.univ-lille2.fr/</ref> </desc></org></tutelle><tutelle active="#struct-425779" type="direct"><org type="institution" xml:id="struct-425779" status="VALID"> <orgName>Centre Hospitalier Régional Universitaire [Lille]</orgName> <orgName type="acronym">CHRU Lille</orgName> <desc> <address> <addrLine>2, avenue Oscar Lambret - 59037 Lille Cedex</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.chru-lille.fr/</ref> </desc></org></tutelle></tutelles></hal:affiliation><country>France</country></affiliation></author><author><name sortKey="Gouya, Laurent" sort="Gouya, Laurent" uniqKey="Gouya L" first="Laurent" last="Gouya">Laurent Gouya</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-3041" status="OLD"> <orgName>Centre de recherche biomédicale Bichat-Beaujon</orgName> <orgName type="acronym">CRB3</orgName> <desc> <address> <addrLine>Faculte de Medecine Xavier Bichat 16, Rue Henri Huchard 75870 PARIS CEDEX 18</addrLine> <country key="FR"></country> </address> </desc> <listRelation> <relation active="#struct-300301" type="direct"></relation> <relation name="U773" active="#struct-303623" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-300301" type="direct"><org type="institution" xml:id="struct-300301" status="VALID"> <orgName>Université Paris Diderot - Paris 7</orgName> <orgName type="acronym">UPD7</orgName> <desc> <address> <addrLine>5 rue Thomas-Mann - 75205 Paris cedex 13</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.univ-paris-diderot.fr</ref> </desc></org></tutelle><tutelle name="U773" active="#struct-303623" type="direct"><org type="institution" xml:id="struct-303623" status="VALID"> <idno type="IdRef">026388278</idno> <orgName>Institut National de la Santé et de la Recherche Médicale</orgName> <orgName type="acronym">INSERM</orgName> <desc> <address> <addrLine>101, rue de Tolbiac, 75013 Paris </addrLine> <country key="FR"></country> </address> <ref type="url">http://www.inserm.fr</ref> </desc></org></tutelle></tutelles></hal:affiliation><country>France</country></affiliation></author><author><name sortKey="Maurage, Claude Alain" sort="Maurage, Claude Alain" uniqKey="Maurage C" first="Claude Alain" last="Maurage">Claude Alain Maurage</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-415061" status="INCOMING"> <orgName>CRM J-P Aubert INSERM UMR 837</orgName> <desc> <address> <country key="FR"></country> </address> </desc> <listRelation> <relation active="#struct-374570" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-374570" type="direct"><org type="institution" xml:id="struct-374570" status="VALID"><orgName>Université de Lille</orgName><desc><address><addrLine>Lille</addrLine><country key="FR"></country></address><ref type="url">https://www.univ-lille.fr/</ref></desc></org></tutelle></tutelles></hal:affiliation><country>France</country></affiliation></author><author><name sortKey="Kacet, Salem" sort="Kacet, Salem" uniqKey="Kacet S" first="Salem" last="Kacet">Salem Kacet</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-18639" status="VALID"> <orgName>Hôpital cardiologique</orgName> <desc> <address> <addrLine>Place de Verdun, 59037 Lille cedex</addrLine> <country key="FR"></country> </address> </desc> <listRelation> <relation active="#struct-361611" 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arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations</title><author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-157792" status="VALID"> <orgName>Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)</orgName> <desc> <address> <addrLine>CHU de Dijon - 14 rue Paul Gaffarel - BP 77908 - 21079 DIJON Cedex</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.chu-dijon.fr/fr/service/centre-genetique-centre-reference-maladies-rares-anomalies-developpement-syndromes</ref> </desc> <listRelation> <relation active="#struct-300924" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-300924" type="direct"><org type="institution" xml:id="struct-300924" 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31059 Toulouse Cedex 09</addrLine> <country key="FR"></country> </address> </desc></org></tutelle><tutelle active="#struct-300779" type="direct"><org type="institution" xml:id="struct-300779" status="VALID"> <orgName>Hôpital Purpan</orgName> <desc> <address> <addrLine>Toulouse</addrLine> <country key="FR"></country> </address> </desc></org></tutelle></tutelles></hal:affiliation><country>France</country></affiliation></author><author><name sortKey="Duboc, Denis" sort="Duboc, Denis" uniqKey="Duboc D" first="Denis" last="Duboc">Denis Duboc</name><affiliation wicri:level="1"><hal:affiliation type="department" xml:id="struct-455241" status="VALID"> <orgName>Service de Cardiologie [CHU Cochin]</orgName> <desc> <address> <country key="FR"></country> </address> </desc> <listRelation> <relation active="#struct-300068" type="direct"></relation> <relation active="#struct-300123" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-300068" type="direct"><org 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Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques</orgName> <orgName type="acronym">CIC-EC</orgName> <date type="start">2003</date> <desc> <address> <addrLine>Faculté de Médecine - - BP 87900 - 7 Bd Jeanne d'Arc - 21079 DIJON CEDEX</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.grand-est.inserm.fr/rubriques/l-inserm-grand-est/organisation/structures-de-recherche/dijon/annexes/cic-1432-ec</ref> </desc> <listRelation> <relation active="#struct-300270" type="direct"></relation> <relation active="#struct-300924" type="direct"></relation> <relation active="#struct-303623" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-300270" type="direct"><org type="institution" xml:id="struct-300270" status="VALID"> <orgName>Université de Bourgogne</orgName> <orgName type="acronym">UB</orgName> <desc> <address> <addrLine>Maison de l'université - Esplanade Érasme - BP 27877 - 21078 Dijon cedex</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.u-bourgogne.fr/</ref> </desc></org></tutelle><tutelle active="#struct-300924" type="direct"><org type="institution" xml:id="struct-300924" status="VALID"> <orgName>Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand</orgName> <orgName type="acronym">CHU Dijon</orgName> <desc> <address> <addrLine>CHU Dijon - 14 rue Paul Gaffarel - 21079 Dijon</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.chu-dijon.fr/fr</ref> </desc></org></tutelle><tutelle active="#struct-303623" type="direct"><org type="institution" xml:id="struct-303623" status="VALID"> <idno type="IdRef">026388278</idno> <orgName>Institut National de la Santé et de la Recherche Médicale</orgName> <orgName type="acronym">INSERM</orgName> <desc> <address> <addrLine>101, rue de Tolbiac, 75013 Paris </addrLine> <country key="FR"></country> </address> <ref type="url">http://www.inserm.fr</ref> </desc></org></tutelle></tutelles></hal:affiliation><country>France</country><placeName><settlement type="city">Dijon</settlement><region type="region" nuts="2">Région Bourgogne</region></placeName><orgName type="university">Université de Bourgogne</orgName><orgName type="institution" wicri:auto="newGroup">Université de Bourgogne Franche-Comté</orgName></affiliation></author><author><name sortKey="Binquet, Christine" sort="Binquet, Christine" uniqKey="Binquet C" first="Christine" last="Binquet">Christine Binquet</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-2625" status="VALID"> <orgName>Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques</orgName> <orgName type="acronym">CIC-EC</orgName> <date type="start">2003</date> <desc> <address> <addrLine>Faculté de Médecine - - BP 87900 - 7 Bd Jeanne d'Arc - 21079 DIJON CEDEX</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.grand-est.inserm.fr/rubriques/l-inserm-grand-est/organisation/structures-de-recherche/dijon/annexes/cic-1432-ec</ref> </desc> <listRelation> <relation active="#struct-300270" type="direct"></relation> <relation active="#struct-300924" type="direct"></relation> <relation active="#struct-303623" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-300270" type="direct"><org type="institution" xml:id="struct-300270" status="VALID"> <orgName>Université de Bourgogne</orgName> <orgName type="acronym">UB</orgName> <desc> <address> <addrLine>Maison de l'université - Esplanade Érasme - BP 27877 - 21078 Dijon cedex</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.u-bourgogne.fr/</ref> </desc></org></tutelle><tutelle active="#struct-300924" type="direct"><org type="institution" xml:id="struct-300924" status="VALID"> <orgName>Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand</orgName> <orgName type="acronym">CHU Dijon</orgName> <desc> <address> <addrLine>CHU Dijon - 14 rue Paul Gaffarel - 21079 Dijon</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.chu-dijon.fr/fr</ref> </desc></org></tutelle><tutelle active="#struct-303623" type="direct"><org type="institution" xml:id="struct-303623" status="VALID"> <idno type="IdRef">026388278</idno> <orgName>Institut National de la Santé et de la Recherche Médicale</orgName> <orgName type="acronym">INSERM</orgName> <desc> <address> <addrLine>101, rue de Tolbiac, 75013 Paris </addrLine> <country key="FR"></country> </address> <ref type="url">http://www.inserm.fr</ref> </desc></org></tutelle></tutelles></hal:affiliation><country>France</country><placeName><settlement type="city">Dijon</settlement><region type="region" nuts="2">Région Bourgogne</region></placeName><orgName type="university">Université de Bourgogne</orgName><orgName type="institution" wicri:auto="newGroup">Université de Bourgogne Franche-Comté</orgName></affiliation></author><author><name sortKey="Thauvin Robinet, Christel" sort="Thauvin Robinet, Christel" uniqKey="Thauvin Robinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-157792" status="VALID"> <orgName>Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)</orgName> <desc> <address> <addrLine>CHU de Dijon - 14 rue Paul Gaffarel - BP 77908 - 21079 DIJON Cedex</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.chu-dijon.fr/fr/service/centre-genetique-centre-reference-maladies-rares-anomalies-developpement-syndromes</ref> </desc> <listRelation> <relation active="#struct-300924" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-300924" type="direct"><org type="institution" xml:id="struct-300924" status="VALID"> <orgName>Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand</orgName> <orgName type="acronym">CHU Dijon</orgName> <desc> <address> <addrLine>CHU Dijon - 14 rue Paul Gaffarel - 21079 Dijon</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.chu-dijon.fr/fr</ref> </desc></org></tutelle></tutelles></hal:affiliation><country>France</country></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-157792" status="VALID"> <orgName>Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)</orgName> <desc> <address> <addrLine>CHU de Dijon - 14 rue Paul Gaffarel - BP 77908 - 21079 DIJON Cedex</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.chu-dijon.fr/fr/service/centre-genetique-centre-reference-maladies-rares-anomalies-developpement-syndromes</ref> </desc> <listRelation> <relation active="#struct-300924" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-300924" type="direct"><org type="institution" xml:id="struct-300924" status="VALID"> <orgName>Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand</orgName> <orgName type="acronym">CHU Dijon</orgName> <desc> <address> <addrLine>CHU Dijon - 14 rue Paul Gaffarel - 21079 Dijon</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.chu-dijon.fr/fr</ref> </desc></org></tutelle></tutelles></hal:affiliation><country>France</country></affiliation></author><author><name sortKey="Bouvagnet, Patrice" sort="Bouvagnet, Patrice" uniqKey="Bouvagnet P" first="Patrice" last="Bouvagnet">Patrice Bouvagnet</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-480479" status="INCOMING"> <orgName> Laboratoire Cardiogénétique, CHU de Lyon HCL-GH Est-Hôpital Louis Pradel</orgName> <desc> <address> <addrLine>Service médico-chirurgical Cardiologie Pédiatrique et Congénitale Adulte, Laboratoire Cardiogénétique, CHU de Lyon HCL-GH Est-Hôpital Louis Pradel, 69677 BRON CEDEX, et EA4173 Université Lyon 1 et Hôpital du Nord-Ouest, Lyon</addrLine> <country key="FR"></country> </address> </desc> <listRelation> <relation active="#struct-480478" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-480478" type="direct"><org type="institution" xml:id="struct-480478" status="INCOMING"> <orgName> CHU de Lyon HCL-GH Est-Hôpital Louis Pradel</orgName> <desc> <address> <addrLine>69677 BRON CEDEX</addrLine> <country key="FR"></country> </address> </desc></org></tutelle></tutelles></hal:affiliation><country>France</country></affiliation></author><author><name sortKey="Charron, Philippe" sort="Charron, Philippe" uniqKey="Charron P" first="Philippe" last="Charron">Philippe Charron</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-411195" status="INCOMING"> <orgName>Centre de référence des maladies cardiaques héréditaires</orgName> <desc> <address> <country key="FR"></country> </address> </desc> <listRelation> <relation active="#struct-353778" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-353778" type="direct"><org type="institution" xml:id="struct-353778" status="VALID"> <orgName>CHU Pitié-Salpêtrière [APHP]</orgName> <desc> <address> <addrLine>47-83 Boulevard de l'Hôpital, 75013 Paris</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.aphp.fr/contenu/hopital-universitaire-pitie-salpetriere-0</ref> </desc></org></tutelle></tutelles></hal:affiliation><country>France</country></affiliation></author><author><name sortKey="Richard, Pascale" sort="Richard, Pascale" uniqKey="Richard P" first="Pascale" last="Richard">Pascale Richard</name><affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-411195" status="INCOMING"> <orgName>Centre de référence des maladies cardiaques héréditaires</orgName> <desc> <address> <country key="FR"></country> </address> </desc> <listRelation> <relation active="#struct-353778" type="direct"></relation> </listRelation><tutelles><tutelle active="#struct-353778" type="direct"><org type="institution" xml:id="struct-353778" status="VALID"> <orgName>CHU Pitié-Salpêtrière [APHP]</orgName> <desc> <address> <addrLine>47-83 Boulevard de l'Hôpital, 75013 Paris</addrLine> <country key="FR"></country> </address> <ref type="url">http://www.aphp.fr/contenu/hopital-universitaire-pitie-salpetriere-0</ref> </desc></org></tutelle></tutelles></hal:affiliation><country>France</country></affiliation></author></analytic><idno type="DOI">10.1093/europace/euw067</idno><series><title level="j">EP-Europace</title><idno type="ISSN">1099-5129</idno><imprint><date type="datePub">2016-05-17</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="mix" xml:lang="en"><term>Cardiomyopathy</term><term>PRKAG2</term><term>Time-to-event study</term><term>Ventricular pre-excitation</term><term>Wolff–Parkinson–White</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">AIMS: Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospective time-to-event study of the clinical manifestations associated with PRKAG2 mutations.METHODS AND RESULTS: A cohort of 34 patients from 9 families was recruited between 2001 and 2010. DNA were sequenced on all exons and flanking sequences of the PRKAG2 gene using Sanger sequencing. Overall, four families carried the recurrent p.Arg302Gln mutation, and the five others carried private mutations among which three had never been reported. In the total cohort, at 40 years of age, the risk of developing HCM was 61%, VPE 70%, conduction block 22%, and sudden cardiac death (SCD) 20%. The global survival at 60 years of age was 66%. Thirty-two per cent of patients (N = 10) required a device implantation (5 pacemakers and 5 defibrillators) at a median age of 66 years, and two patients required heart transplant. Only one patient presented with significant skeletal muscle symptoms. No significant differences regarding the occurrence of VPE, ablation complications, or death incidence were observed between different mutations.CONCLUSION: This study of patients with PRKAG2 mutations provides a more comprehensive view of the natural history of this disease and demonstrates a high risk of cardiac complications. Early recognition of this disease appears important to allow an appropriate management.</div></front></TEI></HAL><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.</title><author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Laurent, Gabriel" sort="Laurent, Gabriel" uniqKey="Laurent G" first="Gabriel" last="Laurent">Gabriel Laurent</name><affiliation wicri:level="3"><nlm:affiliation>Service de Rythmologie et Insuffisance Cardiaque, Hôpital du Bocage, Centre Hospitalo-Universitaire de Dijon, Dijon, France Laboratoire LE2I UMR CNRS 5158, Université de Bourgogne, 9 avenue Alain Savary, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Rythmologie et Insuffisance Cardiaque, Hôpital du Bocage, Centre Hospitalo-Universitaire de Dijon, Dijon, France Laboratoire LE2I UMR CNRS 5158, Université de Bourgogne, 9 avenue Alain Savary, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Ader, Flavie" sort="Ader, Flavie" uniqKey="Ader F" first="Flavie" last="Ader">Flavie Ader</name><affiliation wicri:level="3"><nlm:affiliation>AP-HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière 47-83 boulevard de l'Hôpital, Paris cedex 13 75651, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière 47-83 boulevard de l'Hôpital, Paris cedex 13 75651</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Laforet, Pascal" sort="Laforet, Pascal" uniqKey="Laforet P" first="Pascal" last="Laforêt">Pascal Laforêt</name><affiliation wicri:level="3"><nlm:affiliation>AP-HP, Centre de Référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Centre de Référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Klug, Didier" sort="Klug, Didier" uniqKey="Klug D" first="Didier" last="Klug">Didier Klug</name><affiliation wicri:level="3"><nlm:affiliation>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille</wicri:regionArea><placeName><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Duva Pentiah, Anju" sort="Duva Pentiah, Anju" uniqKey="Duva Pentiah A" first="Anju" last="Duva Pentiah">Anju Duva Pentiah</name><affiliation wicri:level="3"><nlm:affiliation>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille</wicri:regionArea><placeName><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Gouya, Laurent" sort="Gouya, Laurent" uniqKey="Gouya L" first="Laurent" last="Gouya">Laurent Gouya</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U773, Centre de Recherche Biomédicale Bichat Beaujon CRB3, Université Paris 7 Denis Diderot, site Bichat, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U773, Centre de Recherche Biomédicale Bichat Beaujon CRB3, Université Paris 7 Denis Diderot, site Bichat, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Maurage, Claude Alain" sort="Maurage, Claude Alain" uniqKey="Maurage C" first="Claude Alain" last="Maurage">Claude Alain Maurage</name><affiliation wicri:level="3"><nlm:affiliation>Université Lille Nord de France, USDL, EA 1056, Lille F-59000, France Département de Pathologie, Hôpital Universitaire de Lille, Lille F-59000, France INSERM U837, Lille F-59000, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Lille Nord de France, USDL, EA 1056, Lille F-59000, France Département de Pathologie, Hôpital Universitaire de Lille, Lille F-59000, France INSERM U837, Lille F-59000</wicri:regionArea><placeName><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName></affiliation></author><author><name sortKey="Kacet, Salem" sort="Kacet, Salem" uniqKey="Kacet S" first="Salem" last="Kacet">Salem Kacet</name><affiliation wicri:level="3"><nlm:affiliation>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille</wicri:regionArea><placeName><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Eicher, Jean Christophe" sort="Eicher, Jean Christophe" uniqKey="Eicher J" first="Jean-Christophe" last="Eicher">Jean-Christophe Eicher</name><affiliation wicri:level="3"><nlm:affiliation>Service de Rythmologie et Insuffisance Cardiaque, Hôpital du Bocage, Centre Hospitalo-Universitaire de Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Rythmologie et Insuffisance Cardiaque, Hôpital du Bocage, Centre Hospitalo-Universitaire de Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Albuisson, Juliette" sort="Albuisson, Juliette" uniqKey="Albuisson J" first="Juliette" last="Albuisson">Juliette Albuisson</name><affiliation wicri:level="3"><nlm:affiliation>INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France AP-HP, Département de génétique, Hôpital européen Georges-Pompidou, 20, rue Leblanc, Paris 75015, France Inserm U 633, faculté de médecine, université Paris-5, Paris 75015, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France AP-HP, Département de génétique, Hôpital européen Georges-Pompidou, 20, rue Leblanc, Paris 75015, France Inserm U 633, faculté de médecine, université Paris-5, Paris 75015</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Desnos, Michel" sort="Desnos, Michel" uniqKey="Desnos M" first="Michel" last="Desnos">Michel Desnos</name><affiliation wicri:level="3"><nlm:affiliation>INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France AP-HP, Département de génétique, Hôpital européen Georges-Pompidou, 20, rue Leblanc, Paris 75015, France Inserm U 633, faculté de médecine, université Paris-5, Paris 75015, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France AP-HP, Département de génétique, Hôpital européen Georges-Pompidou, 20, rue Leblanc, Paris 75015, France Inserm U 633, faculté de médecine, université Paris-5, Paris 75015</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Bieth, Eric" sort="Bieth, Eric" uniqKey="Bieth E" first="Eric" last="Bieth">Eric Bieth</name><affiliation wicri:level="3"><nlm:affiliation>Department of Medical Genetics, Hôpital Purpan, Toulouse, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, Hôpital Purpan, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Duboc, Denis" sort="Duboc, Denis" uniqKey="Duboc D" first="Denis" last="Duboc">Denis Duboc</name><affiliation wicri:level="3"><nlm:affiliation>AP-HP, Service de Cardiologie, Hôpital Cochin, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Service de Cardiologie, Hôpital Cochin, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Martin, Laurent" sort="Martin, Laurent" uniqKey="Martin L" first="Laurent" last="Martin">Laurent Martin</name><affiliation wicri:level="3"><nlm:affiliation>Laboratoire d'anatomopathologie, Plateau technique de Biologie, CHU de Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire d'anatomopathologie, Plateau technique de Biologie, CHU de Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Reant, Patricia" sort="Reant, Patricia" uniqKey="Reant P" first="Patricia" last="Réant">Patricia Réant</name><affiliation wicri:level="1"><nlm:affiliation>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac</wicri:regionArea><wicri:noRegion>Pessac</wicri:noRegion><wicri:noRegion>Pessac</wicri:noRegion></affiliation></author><author><name sortKey="Picard, Francois" sort="Picard, Francois" uniqKey="Picard F" first="François" last="Picard">François Picard</name><affiliation wicri:level="1"><nlm:affiliation>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac</wicri:regionArea><wicri:noRegion>Pessac</wicri:noRegion><wicri:noRegion>Pessac</wicri:noRegion></affiliation></author><author><name sortKey="Bonithon Kopp, Claire" sort="Bonithon Kopp, Claire" uniqKey="Bonithon Kopp C" first="Claire" last="Bonithon-Kopp">Claire Bonithon-Kopp</name><affiliation wicri:level="3"><nlm:affiliation>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Gautier, Elodie" sort="Gautier, Elodie" uniqKey="Gautier E" first="Elodie" last="Gautier">Elodie Gautier</name><affiliation wicri:level="3"><nlm:affiliation>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Binquet, Christine" sort="Binquet, Christine" uniqKey="Binquet C" first="Christine" last="Binquet">Christine Binquet</name><affiliation wicri:level="3"><nlm:affiliation>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Thauvin Robinet, Christel" sort="Thauvin Robinet, Christel" uniqKey="Thauvin Robinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Bouvagnet, Patrice" sort="Bouvagnet, Patrice" uniqKey="Bouvagnet P" first="Patrice" last="Bouvagnet">Patrice Bouvagnet</name><affiliation wicri:level="3"><nlm:affiliation>Service médico-chirurgical Cardiologie Pédiatrique et Congénitale Adulte, Laboratoire Cardiogénétique, CHU de Lyon HCL-GH Est-Hôpital Louis Pradel, 69677 BRON CEDEX, et EA4173 Université Lyon 1 et Hôpital du Nord-Ouest, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service médico-chirurgical Cardiologie Pédiatrique et Congénitale Adulte, Laboratoire Cardiogénétique, CHU de Lyon HCL-GH Est-Hôpital Louis Pradel, 69677 BRON CEDEX, et EA4173 Université Lyon 1 et Hôpital du Nord-Ouest, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Charron, Philippe" sort="Charron, Philippe" uniqKey="Charron P" first="Philippe" last="Charron">Philippe Charron</name><affiliation wicri:level="4"><nlm:affiliation>AP-HP, Centre de référence des maladies cardiaques héréditaires, Hôpital Ambroise Paré, Boulogne-Billancourt, Université de Versailles Saint Quentin en Yvelines, Paris, France AP-HP, Centre de référence des maladies cardiaques héréditaires, Inserm UMRS1166, Hôpital de la Pitié-Salpêtrière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Centre de référence des maladies cardiaques héréditaires, Hôpital Ambroise Paré, Boulogne-Billancourt, Université de Versailles Saint Quentin en Yvelines, Paris, France AP-HP, Centre de référence des maladies cardiaques héréditaires, Inserm UMRS1166, Hôpital de la Pitié-Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université de Versailles-Saint-Quentin-en-Yvelines</orgName></affiliation></author><author><name sortKey="Richard, Pascale" sort="Richard, Pascale" uniqKey="Richard P" first="Pascale" last="Richard">Pascale Richard</name><affiliation wicri:level="3"><nlm:affiliation>AP-HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière 47-83 boulevard de l'Hôpital, Paris cedex 13 75651, France AP-HP, Centre de référence des maladies cardiaques héréditaires, Inserm UMRS1166, Hôpital de la Pitié-Salpêtrière, Paris, France pascale.richard@aphp.fr.</nlm:affiliation><country wicri:rule="url">France</country><wicri:regionArea>AP-HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière 47-83 boulevard de l'Hôpital, Paris cedex 13 75651, France AP-HP, Centre de référence des maladies cardiaques héréditaires, Inserm UMRS1166, Hôpital de la Pitié-Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27189955</idno><idno type="pmid">27189955</idno><idno type="doi">10.1093/europace/euw067</idno><idno type="wicri:Area/PubMed/Corpus">000142</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000142</idno><idno type="wicri:Area/PubMed/Curation">000142</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000142</idno><idno type="wicri:Area/PubMed/Checkpoint">000142</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000142</idno><idno type="wicri:Area/Ncbi/Merge">001A24</idno><idno type="wicri:Area/Ncbi/Curation">001A24</idno><idno type="wicri:Area/Ncbi/Checkpoint">001A24</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.</title><author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Laurent, Gabriel" sort="Laurent, Gabriel" uniqKey="Laurent G" first="Gabriel" last="Laurent">Gabriel Laurent</name><affiliation wicri:level="3"><nlm:affiliation>Service de Rythmologie et Insuffisance Cardiaque, Hôpital du Bocage, Centre Hospitalo-Universitaire de Dijon, Dijon, France Laboratoire LE2I UMR CNRS 5158, Université de Bourgogne, 9 avenue Alain Savary, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Rythmologie et Insuffisance Cardiaque, Hôpital du Bocage, Centre Hospitalo-Universitaire de Dijon, Dijon, France Laboratoire LE2I UMR CNRS 5158, Université de Bourgogne, 9 avenue Alain Savary, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Ader, Flavie" sort="Ader, Flavie" uniqKey="Ader F" first="Flavie" last="Ader">Flavie Ader</name><affiliation wicri:level="3"><nlm:affiliation>AP-HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière 47-83 boulevard de l'Hôpital, Paris cedex 13 75651, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière 47-83 boulevard de l'Hôpital, Paris cedex 13 75651</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Laforet, Pascal" sort="Laforet, Pascal" uniqKey="Laforet P" first="Pascal" last="Laforêt">Pascal Laforêt</name><affiliation wicri:level="3"><nlm:affiliation>AP-HP, Centre de Référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Centre de Référence de pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Klug, Didier" sort="Klug, Didier" uniqKey="Klug D" first="Didier" last="Klug">Didier Klug</name><affiliation wicri:level="3"><nlm:affiliation>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille</wicri:regionArea><placeName><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Duva Pentiah, Anju" sort="Duva Pentiah, Anju" uniqKey="Duva Pentiah A" first="Anju" last="Duva Pentiah">Anju Duva Pentiah</name><affiliation wicri:level="3"><nlm:affiliation>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille</wicri:regionArea><placeName><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Gouya, Laurent" sort="Gouya, Laurent" uniqKey="Gouya L" first="Laurent" last="Gouya">Laurent Gouya</name><affiliation wicri:level="3"><nlm:affiliation>INSERM U773, Centre de Recherche Biomédicale Bichat Beaujon CRB3, Université Paris 7 Denis Diderot, site Bichat, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U773, Centre de Recherche Biomédicale Bichat Beaujon CRB3, Université Paris 7 Denis Diderot, site Bichat, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Maurage, Claude Alain" sort="Maurage, Claude Alain" uniqKey="Maurage C" first="Claude Alain" last="Maurage">Claude Alain Maurage</name><affiliation wicri:level="3"><nlm:affiliation>Université Lille Nord de France, USDL, EA 1056, Lille F-59000, France Département de Pathologie, Hôpital Universitaire de Lille, Lille F-59000, France INSERM U837, Lille F-59000, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Lille Nord de France, USDL, EA 1056, Lille F-59000, France Département de Pathologie, Hôpital Universitaire de Lille, Lille F-59000, France INSERM U837, Lille F-59000</wicri:regionArea><placeName><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region></placeName></affiliation></author><author><name sortKey="Kacet, Salem" sort="Kacet, Salem" uniqKey="Kacet S" first="Salem" last="Kacet">Salem Kacet</name><affiliation wicri:level="3"><nlm:affiliation>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Cardiologique, Bd du Pr Leclercq 59037, Lille</wicri:regionArea><placeName><region type="region" nuts="2">Hauts-de-France</region><region type="old region" nuts="2">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Eicher, Jean Christophe" sort="Eicher, Jean Christophe" uniqKey="Eicher J" first="Jean-Christophe" last="Eicher">Jean-Christophe Eicher</name><affiliation wicri:level="3"><nlm:affiliation>Service de Rythmologie et Insuffisance Cardiaque, Hôpital du Bocage, Centre Hospitalo-Universitaire de Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Rythmologie et Insuffisance Cardiaque, Hôpital du Bocage, Centre Hospitalo-Universitaire de Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Albuisson, Juliette" sort="Albuisson, Juliette" uniqKey="Albuisson J" first="Juliette" last="Albuisson">Juliette Albuisson</name><affiliation wicri:level="3"><nlm:affiliation>INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France AP-HP, Département de génétique, Hôpital européen Georges-Pompidou, 20, rue Leblanc, Paris 75015, France Inserm U 633, faculté de médecine, université Paris-5, Paris 75015, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France AP-HP, Département de génétique, Hôpital européen Georges-Pompidou, 20, rue Leblanc, Paris 75015, France Inserm U 633, faculté de médecine, université Paris-5, Paris 75015</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Desnos, Michel" sort="Desnos, Michel" uniqKey="Desnos M" first="Michel" last="Desnos">Michel Desnos</name><affiliation wicri:level="3"><nlm:affiliation>INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France AP-HP, Département de génétique, Hôpital européen Georges-Pompidou, 20, rue Leblanc, Paris 75015, France Inserm U 633, faculté de médecine, université Paris-5, Paris 75015, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France AP-HP, Département de génétique, Hôpital européen Georges-Pompidou, 20, rue Leblanc, Paris 75015, France Inserm U 633, faculté de médecine, université Paris-5, Paris 75015</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Bieth, Eric" sort="Bieth, Eric" uniqKey="Bieth E" first="Eric" last="Bieth">Eric Bieth</name><affiliation wicri:level="3"><nlm:affiliation>Department of Medical Genetics, Hôpital Purpan, Toulouse, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, Hôpital Purpan, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Duboc, Denis" sort="Duboc, Denis" uniqKey="Duboc D" first="Denis" last="Duboc">Denis Duboc</name><affiliation wicri:level="3"><nlm:affiliation>AP-HP, Service de Cardiologie, Hôpital Cochin, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Service de Cardiologie, Hôpital Cochin, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Martin, Laurent" sort="Martin, Laurent" uniqKey="Martin L" first="Laurent" last="Martin">Laurent Martin</name><affiliation wicri:level="3"><nlm:affiliation>Laboratoire d'anatomopathologie, Plateau technique de Biologie, CHU de Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire d'anatomopathologie, Plateau technique de Biologie, CHU de Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Reant, Patricia" sort="Reant, Patricia" uniqKey="Reant P" first="Patricia" last="Réant">Patricia Réant</name><affiliation wicri:level="1"><nlm:affiliation>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac</wicri:regionArea><wicri:noRegion>Pessac</wicri:noRegion><wicri:noRegion>Pessac</wicri:noRegion></affiliation></author><author><name sortKey="Picard, Francois" sort="Picard, Francois" uniqKey="Picard F" first="François" last="Picard">François Picard</name><affiliation wicri:level="1"><nlm:affiliation>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Cardiologie, Hôpital Haut-Lévèque, Pessac</wicri:regionArea><wicri:noRegion>Pessac</wicri:noRegion><wicri:noRegion>Pessac</wicri:noRegion></affiliation></author><author><name sortKey="Bonithon Kopp, Claire" sort="Bonithon Kopp, Claire" uniqKey="Bonithon Kopp C" first="Claire" last="Bonithon-Kopp">Claire Bonithon-Kopp</name><affiliation wicri:level="3"><nlm:affiliation>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Gautier, Elodie" sort="Gautier, Elodie" uniqKey="Gautier E" first="Elodie" last="Gautier">Elodie Gautier</name><affiliation wicri:level="3"><nlm:affiliation>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Binquet, Christine" sort="Binquet, Christine" uniqKey="Binquet C" first="Christine" last="Binquet">Christine Binquet</name><affiliation wicri:level="3"><nlm:affiliation>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre d'investigation clinique-épidémiologie clinique/essais cliniques, CHU, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Thauvin Robinet, Christel" sort="Thauvin Robinet, Christel" uniqKey="Thauvin Robinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation wicri:level="3"><nlm:affiliation>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Bouvagnet, Patrice" sort="Bouvagnet, Patrice" uniqKey="Bouvagnet P" first="Patrice" last="Bouvagnet">Patrice Bouvagnet</name><affiliation wicri:level="3"><nlm:affiliation>Service médico-chirurgical Cardiologie Pédiatrique et Congénitale Adulte, Laboratoire Cardiogénétique, CHU de Lyon HCL-GH Est-Hôpital Louis Pradel, 69677 BRON CEDEX, et EA4173 Université Lyon 1 et Hôpital du Nord-Ouest, Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service médico-chirurgical Cardiologie Pédiatrique et Congénitale Adulte, Laboratoire Cardiogénétique, CHU de Lyon HCL-GH Est-Hôpital Louis Pradel, 69677 BRON CEDEX, et EA4173 Université Lyon 1 et Hôpital du Nord-Ouest, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Charron, Philippe" sort="Charron, Philippe" uniqKey="Charron P" first="Philippe" last="Charron">Philippe Charron</name><affiliation wicri:level="4"><nlm:affiliation>AP-HP, Centre de référence des maladies cardiaques héréditaires, Hôpital Ambroise Paré, Boulogne-Billancourt, Université de Versailles Saint Quentin en Yvelines, Paris, France AP-HP, Centre de référence des maladies cardiaques héréditaires, Inserm UMRS1166, Hôpital de la Pitié-Salpêtrière, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Centre de référence des maladies cardiaques héréditaires, Hôpital Ambroise Paré, Boulogne-Billancourt, Université de Versailles Saint Quentin en Yvelines, Paris, France AP-HP, Centre de référence des maladies cardiaques héréditaires, Inserm UMRS1166, Hôpital de la Pitié-Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université de Versailles-Saint-Quentin-en-Yvelines</orgName></affiliation></author><author><name sortKey="Richard, Pascale" sort="Richard, Pascale" uniqKey="Richard P" first="Pascale" last="Richard">Pascale Richard</name><affiliation wicri:level="3"><nlm:affiliation>AP-HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière 47-83 boulevard de l'Hôpital, Paris cedex 13 75651, France AP-HP, Centre de référence des maladies cardiaques héréditaires, Inserm UMRS1166, Hôpital de la Pitié-Salpêtrière, Paris, France pascale.richard@aphp.fr.</nlm:affiliation><country wicri:rule="url">France</country><wicri:regionArea>AP-HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Groupe Hospitalier Pitié-Salpêtrière 47-83 boulevard de l'Hôpital, Paris cedex 13 75651, France AP-HP, Centre de référence des maladies cardiaques héréditaires, Inserm UMRS1166, Hôpital de la Pitié-Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><series><title level="j">Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology</title><idno type="eISSN">1532-2092</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospective time-to-event study of the clinical manifestations associated with PRKAG2 mutations.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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