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Article

Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.

Circulation. Cardiovascular genetics - 1 Aug 2011

Probst Susanne, Oechslin Erwin, Schuler Pia, Greutmann Matthias, Boyé Philipp, Knirsch Walter, Berger Felix, Thierfelder Ludwig, Jenni Rolf, Klaassen Sabine

Abstract excerpt

BACKGROUND: Left ventricular noncompaction of the myocardium (LVNC) has been recognized as a cardiomyopathy with a genetic etiology. Mutations in genes encoding sarcomere proteins were shown to be associated with LVNC. We evaluated the potential clinical impact of genetic analysis of sarcomere genes in patients with LVNC. METHODS AND RESULTS: We identified 5 mutations in cardiac myosin-binding protein C (MYBPC3)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21551322
DOI: 10.1161/CIRCGENETICS.110.959270

Genes

MYBPC3
TPM1
MYH7

Provenance

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