The Desmin Mutation DES-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 DES-c.735G>C. As DES-c.735G...

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Detalles Bibliográficos
Autores principales: Brodehl, Andreas, Hain, Carsten, Flottmann, Franziska, Ratnavadivel, Sandra, Gaertner, Anna, Klauke, Bärbel, Kalinowski, Jörn, Körperich, Hermann, Gummert, Jan, Paluszkiewicz, Lech, Deutsch, Marcus-André, Milting, Hendrik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8533191/
https://www.ncbi.nlm.nih.gov/pubmed/34680517
http://dx.doi.org/10.3390/biomedicines9101400

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