Article
Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
Circulation. Cardiovascular genetics - 1 Oct 2012
Binder Josepha S, Weidemann Frank, Schoser Benedikt, Niemann Markus, Machann Wolfram, Beer Meinrad, Plank Gernot, Schmidt Albrecht, Bisping Egbert, Poparic Ivana, Lafer Ingrid, Stojakovic Tatjana, Quasthoff Stefan, Vincent John B, Rienmueller Rainer, Speicher Michael R, Berghold Andrea, Pieske Burkert, Windpassinger Christian
Abstract excerpt
BACKGROUND: X-linked myopathy with postural muscle atrophy is a novel X-linked myopathy caused by mutations in the four-and-a-half LIM domain 1 gene (FHL1). Cardiac involvement was suspected in initial publications. We now systematically analyzed the association of the FHL1 genotype with the cardiac phenotype to establish a potential cardiac involvement in the disease. METHODS AND RESULTS: Seventeen male patients...
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