A founderMYBPC3mutation results in HCM with a high risk of sudden death after the fourth decade of life-Reference-Cited by-同舟云学术

A founderMYBPC3mutation results in HCM with a high risk of sudden death after the fourth decade of life

Published:2015-03-04 Issue:5 Volume:52 Page:338-347
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Calore Chiara,De Bortoli Marzia,Romualdi Chiara,Lorenzon Alessandra,Angelini Annalisa,Basso Cristina,Thiene Gaetano,Iliceto Sabino,Rampazzo Alessandra,Melacini Paola

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference30 articles.

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1. Clinical Outcome of Hypertrophic Cardiomyopathy in Probands with the Founder Variant c.913_914del in MYBPC3: A Slovenian Cohort Study;Journal of Cardiovascular Translational Research;2024-08-19

2. The Novel Frameshift Variant of the MYBPC3 Gene Associated with Hypertrophic Cardiomyopathy Significantly Decreases the Level of This Gene Transcript in the Myocardium;Russian Journal of Genetics;2024-06

3. Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy;Circulation;2024-01-09

4. Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy;Circulation: Genomic and Precision Medicine;2023-08

5. The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation;European Journal of Medical Genetics;2022-12