Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene

Circulation: Cardiovascular Genetics

Volumn 6, Issue 6, 2013, Pages 543-551

  Hartmannova, Hana ^a   Kubanek, Milos ^b   Sramko, Marek ^b   Piherova, Lenka ^a   Noskova, Lenka ^a   Hodanova, Katerina ^a   Stranecky, Viktor ^a   Pristoupilova, Anna ^a   Sovova, Jana ^a   Marek, Tomas ^b   Maluskova, Jana ^b   Ridzon, Petr ^c   Kautzner, Josef ^b   Hulkova, Helena ^a   Kmoch, Stanislav ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b INSTITUTE FOR CLINICAL AND EXPERIMENTAL MEDICINE   (Czech Republic)

^c FAKULTNÍ THOMAYEROVA NEMOCNICE   (Czech Republic)

Author keywords

Cardiomyopathy hypertrophic; Diastolic; Exome; Heart failure

Indexed keywords

LIM DOMAIN 1 PROTEIN; LIM PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTERY INTIMA PROLIFERATION; ARTICLE; ATHEROSCLEROTIC PLAQUE; ATRIOVENTRICULAR BLOCK; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; DISEASE SEVERITY; DYSPNEA; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTRON MICROSCOPY; EXOME; FAMILY HISTORY; FEMALE; FIBROSING ALVEOLITIS; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HEART FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; IMMUNOHISTOCHEMISTRY; LEFT VENTRICULAR DIASTOLIC DYSFUNCTION; LEFT VENTRICULAR SYSTOLIC DYSFUNCTION; MALE; MEDICAL HISTORY; MIDDLE AGED; NEUROLOGIC EXAMINATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; RNA STABILITY; SINGLE NUCLEOTIDE POLYMORPHISM; ST SEGMENT DEPRESSION; VERY ELDERLY; WESTERN BLOTTING; YOUNG ADULT;

CARDIOMYOPATHY, HYPERTROPHIC; EXOME; HEART FAILURE, DIASTOLIC;

ADOLESCENT; ADULT; AGED, 80 AND OVER; CARDIOMYOPATHY, HYPERTROPHIC; ELECTROCARDIOGRAPHY; FAMILY HEALTH; FEMALE; GENES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LIM DOMAIN PROTEINS; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE PROTEINS; MUTATION; MYOCARDIUM; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 84892375702     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.113.000245     Document Type: Article

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