The Desmin Mutation <i>DES</i>-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3

The Desmin Mutation <i>DES</i>-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3

Currently, little is known about the genetic background of restrictive cardiomyopathy (RCM). Herein, we screened an index patient with RCM in combination with atrial fibrillation using a next generation sequencing (NGS) approach and identified the heterozygous mutation <i>DES</i>-c.735G&...

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Bibliographic Details
Main Authors: Andreas Brodehl, Carsten Hain, Franziska Flottmann, Sandra Ratnavadivel, Anna Gaertner, Bärbel Klauke, Jörn Kalinowski, Hermann Körperich, Jan Gummert, Lech Paluszkiewicz, Marcus-André Deutsch, Hendrik Milting
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:Biomedicines
Subjects:
restrictive cardiomyopathy
skeletal myopathy
desmin
intermediate filaments
desmosomes
cardiovascular genetics
Online Access:https://www.mdpi.com/2227-9059/9/10/1400

Internet

https://www.mdpi.com/2227-9059/9/10/1400

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