A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family-Reference-Cited by-同舟云学术

A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family

Published:2018-06-26 Issue: Volume: Page:
ISSN:1099-5129
Container-title:EP Europace
language:en
Short-container-title:

Author:

Glöcklhofer Christina R¹²,Steinfurt Johannes¹²,Franke Gerlind¹²,Hoppmann Anselm²³⁴,Glantschnig Theresa⁵,Perez-Feliz Stefanie¹²,Alter Svenja²⁶,Fischer Judith²⁶,Brunner Michael²,Rainer Peter P⁵,Köttgen Anna²³,Bode Christoph¹²,Odening Katja E¹²

Affiliation:

1. Department of Cardiology and Angiology I, Heart Center University of Freiburg, Hugstetter Str. 55, Freiburg, Germany

2. Faculty of Medicine, University of Freiburg, Freiburg, Germany

3. Institute of Genetic Epidemiology, Medical Center University of Freiburg, Freiburg, Germany

4. Genetics and Experimental Bioinformatics, Faculty of Biology, University of Freiburg, Freiburg, Germany

5. Division of Cardiology, Medical University of Graz, Graz, Austria

6. Institute of Human Genetics, Medical Center University of Freiburg, Freiburg, Germany

Publisher

Oxford University Press (OUP)

Subject

Physiology (medical),Cardiology and Cardiovascular Medicine

Link

http://academic.oup.com/europace/advance-article-pdf/doi/10.1093/europace/euy127/25096584/euy127.pdf

Reference58 articles.

1. Genetics of inherited cardiomyopathy;Jacoby;Eur Heart J,2012

2. Inherited cardiomyopathies;Watkins;N Engl J Med,2011

3. Dilated cardiomyopathy: the complexity of a diverse genetic architecture;Hershberger;Nat Rev Cardiol,2013

4. Primary prevention of sudden death in patients with lamin A/C gene mutations;Meune;N Engl J Med,2006

5. Lamins at a glance;Ho;J Cell Sci,2012

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