Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?-Reference-Cited by-同舟云学术

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Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?

Published:2009-12 Issue:12 Volume:17 Page:458-463
ISSN:1568-5888
Container-title:Netherlands Heart Journal
language:nl
Short-container-title:NHJL

Author:

van Rijsingen I. A. W.,Ast J. F. Hermans-van,Arens Y. H. J. M.,Schalla S. M.,de Die-Smulders C. E. M,van den Wijngaard A.,Pinto Y. M.

Publisher

Springer Science and Business Media LLC

Subject

Cardiology and Cardiovascular Medicine

Link

http://link.springer.com/content/pdf/10.1007/BF03086304.pdf

Reference33 articles.

1. Maron BJ, Gardin JM, Flack JM, et al. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation. 1995;92:785–9.

2. Maron BJ, Nichols PF, 3rd, Pickle LW, et al. Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and twodimensional echocardiography. Am J Cardiol 1984;53:1087–94.

3. Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003;107:2227–32.

4. Van Driest SL, Ommen SR, Tajik AJ, et al. Sarcomeric genotyping in hypertrophic cardiomyopathy. Mayo Clinic Proc. 2005;80:463–9.

5. Van Driest SL, Jaeger MA, Ommen SR, et al. Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004;44:602–10.

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1. New Genetic Variant in the MYH7 Gene Associated With Hypoplastic Right Heart Syndrome and Hypertrophic Cardiomyopathy in the Same Family;Circulation: Genomic and Precision Medicine;2023-12

2. Mutation location of HCM-causing troponin T mutations defines the degree of myofilament dysfunction in human cardiomyocytes;Journal of Molecular and Cellular Cardiology;2021-01

3. The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals;European Journal of Medical Genetics;2020-12

4. First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy;Gene;2018-11

5. Double heterozygosity of novel variants found in patients with severe clinical phenotype of cardiovascular disorders;Biotechnology & Biotechnological Equipment;2018-02-06

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