0000000001216587

AUTHOR

Michel Desnos

showing 1 related works from this author

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations

2016

International audience; 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 recur…

0301 basic medicinemedicine.medical_specialtyHeart blockCardiomyopathymedicine.medical_treatmentCardiomyopathyDisease030204 cardiovascular system & hematologySudden cardiac deathTime-to-event study03 medical and health sciences0302 clinical medicine[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemPhysiology (medical)Internal medicineWolff–Parkinson–WhiteVentricular pre-excitationmedicineHeart transplantationbusiness.industryIncidence (epidemiology)Hypertrophic cardiomyopathy[ SDV.MHEP.CSC ] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemmedicine.diseasePRKAG23. Good health030104 developmental biologyCohortCardiologyCardiology and Cardiovascular Medicinebusiness
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