Left ventricular hypertrophy caused by a novel nonsense mutation in FHL1

European Journal of Medical Genetics

Volumn 56, Issue 5, 2013, Pages 251-255

  Gossios, Thomas D ^a   Lopes, Luis R ^a   Elliott, Perry M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Emerin; Emery Dreifuss muscular dystrophy; Four and a half LIM protein 1; Hypertrophic cardiomyopathy; Lamin A C; Left ventricular hypertrophy

Indexed keywords

ACHILLES TENDON; ADULT; ARTICLE; CARDIOPULMONARY EXERCISE TEST; CARDIOVASCULAR MAGNETIC RESONANCE; CASE REPORT; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; EMERY DREIFUSS MUSCULAR DYSTROPHY; FAMILY HISTORY; FOUR AND A HALF LIM PROTEIN 1 GENE; GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEART LEFT VENTRICLE HYPERTROPHY; HUMAN; MALE; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; PEDIGREE;

ADULT; CHROMOSOMES, HUMAN, X; CODON, NONSENSE; DEATH, SUDDEN, CARDIAC; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LAMIN TYPE A; LIM DOMAIN PROTEINS; MALE; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MYOCARDIUM; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; SIGNAL TRANSDUCTION;

EID: 84878631403     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.03.001     Document Type: Article

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