Article
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.
European heart journal - 14 Jun 2016
Claes Godelieve R F, van Tienen Florence H J, Lindsey Patrick, Krapels Ingrid P C, Helderman-van den Enden Apollonia T J M, Hoos Marije B, Barrois Yvette E G, Janssen Johanna W H, Paulussen Aimée D C, Sels Jan-Willem E M, Kuijpers Simone H H, van Tintelen J Peter, van den Berg Maarten P, Heesen Wilfred F, Garcia-Pavia Pablo, Perrot Andreas, Christiaans Imke, Salemink Simone, Marcelis Carlo L M, Smeets Hubert J M, Brunner Han G, Volders Paul G A, van den Wijngaard Arthur
Abstract excerpt
AIMS: Phenotypic heterogeneity and incomplete penetrance are common in patients with hypertrophic cardiomyopathy (HCM). We aim to improve the understanding in genotype-phenotype correlations in HCM, particularly the contribution of an MYL2 founder mutation and risk factors to left ventricular hypertrophic remodelling. METHODS AND RESULTS: We analysed 14 HCM families of whom 38 family members share the MYL2 c.64G...
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