Article
Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.
Circulation. Cardiovascular genetics - 1 Dec 2013
Hartmannova Hana, Kubanek Milos, Sramko Marek, Piherova Lenka, Noskova Lenka, Hodanova Katerina, Stranecky Viktor, Pristoupilova Anna, Sovova Jana, Marek Tomas, Maluskova Jana, Ridzon Petr, Kautzner Josef, Hulkova Helena, Kmoch Stanislav
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy with severe left ventricular diastolic dysfunction has been associated with marked exercise intolerance and poor prognosis. However, molecular pathogenesis of this phenotype remains unexplained in a large proportion of cases. METHODS AND RESULTS: We performed whole exome sequencing as an initial genetic test in a large Czech family with 3 males affected by nonobstructive...
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