Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy

European Heart Journal

Volumn 33, Issue 9, 2012, Pages 1128-1136

  Quarta, Giovanni ^a,b   Syrris, Petros ^c   Ashworth, Michael ^d   Jenkins, Sharon ^a   Zuborne Alapi, Krisztina ^c   Morgan, John ^e   Muir, Alison ^a   Pantazis, Antonios ^a   McKenna, William J ^a,c   Elliott, Perry M ^a,b  

^a UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

Arrhythmogenic right ventricular cardiomyopathy; Lamin A C gene mutations

Indexed keywords

DESMOCOLLIN 2; DESMOGLEIN 2; GLYCOPROTEIN; LAMIN A; LAMIN C; MEMBRANE PROTEIN; PLAKOGLOBIN; PLAKOPHILIN 2; UNCLASSIFIED DRUG;

ANGIOCARDIOGRAPHY; ARTICLE; ARTIFICIAL HEART PACEMAKER; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; ELECTROCARDIOGRAM; EXON; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC VARIABILITY; HEART ATRIUM FIBRILLATION; HEART LEFT VENTRICLE SYSTOLIC DYSFUNCTION; HEART MUSCLE; HEART RIGHT VENTRICLE DYSPLASIA; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PATHOGENICITY; PRIORITY JOURNAL; T WAVE INVERSION;

ADULT; AGE OF ONSET; AGED; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CYTOSKELETAL PROTEINS; DESMOSOMES; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; LAMIN TYPE A; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE;

EID: 84860615370     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehr451     Document Type: Article

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