Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype-Reference-Cited by-同舟云学术

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype

Published:2019-04-24 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kolokotronis Konstantinos¹,Kühnisch Jirko²³,Klopocki Eva¹,Dartsch Josephine²,Rost Simone¹,Huculak Cathleen⁴,Mearini Giulia⁵⁶,Störk Stefan⁷,Carrier Lucie⁵⁶,Klaassen Sabine²³⁸^ORCID,Gerull Brenda⁷^ORCID

Affiliation:

1. Institute of Human Genetics, BiocenterJulius‐Maximilians‐UniversityWürzburg Germany

2. Charité – Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt‐Universität zu Berlin, and Berlin Institute of Health, Experimental and Clinical Research Center (ECRC)a Joint Cooperation between the Charité Medical Faculty and the Max‐Delbrück‐Center for Molecular Medicine (MDC)Berlin Germany

3. DZHK (German Centre for Cardiovascular Research)Partner Site BerlinBerlin Germany

4. Department of Medical GeneticsAlberta Health ServicesCalgary Alberta Canada

5. Institute of Experimental Pharmacology and Toxicology, Cardiovascular Research CenterUniversity Medical Center Hamburg‐EppendorfHamburg Germany

6. DZHK (German Centre for Cardiovascular Research)Partner Site Hamburg/Kiel/LübeckHamburg Germany

7. Comprehensive Heart Failure Center (CHFC) and Department of Medicine IUniversity and University Hospital WürzburgWürzburg Germany

8. Charité – Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt‐Universität zu Berlin, and Berlin Institute of Health, Department of Pediatric CardiologyCharité – University Medicine BerlinBerlin Germany

Funder

Interdisziplinäres Zentrum für Klinische Forschung, Universitätsklinikum Würzburg

Bundesministerium für Bildung und Forschung

Deutsches Zentrum für Herz-Kreislaufforschung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23757

Reference46 articles.

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5. beta‐Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations;Blankenburg R.;Circulation Research,2014

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