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首页> JACC. Basic to translational science> Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2.

Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2.

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第一作者： Nelly,Abdelfatah
第一单位： Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
作者： Nelly,Abdelfatah [1] ; Ruping,Chen [2] ; Henry J,Duff [1] ; Colette M,Seifer [3] ; Ilan,Buffo [4] ; Cathleen,Huculak [5] ; Stephanie,Clarke [6] ; Robin,Clegg [7] ; Davinder S,Jassal [3] ; Paul M K,Gordon [8] ; Carole,Ober [9] ; Care4Rare Canada Consortium [10] ; Patrick,Frosk [11] ; Brenda,Gerull
作者单位： Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada. [1] Comprehensive Heart Failure Center, University Hospital Würzburg, Würzburg, Germany. [2] Section of Cardiology, Department of Internal Medicine, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada. [3] Variety Children's Heart Centre, University of Manitoba, Winnipeg, Manitoba, Canada. [4] Department of Medical Genetics, Alberta Health Services, Calgary, Alberta, Canada. [5] Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada. [6] Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada. [7] Cumming School of Medicine Centre for Health Genomics and Informatics, University of Calgary, Calgary, Alberta, Canada. [8] Department of Human Genetics, The University of Chicago, Chicago, Illinois. [9] Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.;Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada. [10] Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.;Comprehensive Heart Failure Center, University Hospital Würzburg, Würzburg, Germany.;Department of Internal Medicine I, University Hospital Würzburg, Würzburg, Germany. [11]
关键词 ACM, arrhythmogenic cardiomyopathyBANF, barrier to autointegration factorCMR, cardiac magnetic resonanceDAPI, 4′,6′-diamidino-2-phenylindoleDCM, dilated cardiomyopathyDNA, deoxyribonucleic acidEMD, emerinICD, implantable cardioverter-defibrillatorLEMD2LEMD2, LEM domain containing protein 2LGE, late gadolinium enhancementLMNA, lamin A/CLV, left ventricularNE, nuclear envelopeP, passagePBS, phosphate-buffered salineSAHF, senescence-associated heterochromatin fociSNV, single nucleotide variantchromatin remodelingdilated cardiomyopathyeGFP, enhanced green fluorescent proteininner nuclear membranesudden death
DOI 10.1016/j.jacbts.2018.12.001
PMID 31061923
发布时间 2020-09-30
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JACC. Basic to translational science

JACC. Basic to translational science

2019年4卷2期

204-221页

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