Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (<i>DES</i>) Mutation p.Y122H Leading to a Severe Filament Assembly Defect

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (<i>DES</i>) Mutation p.Y122H Leading to a Severe Filament Assembly Defect

Here, we present a small Iranian family, where the index patient received a diagnosis of restrictive cardiomyopathy (RCM) in combination with atrioventricular (AV) block. Genetic analysis revealed a novel homozygous missense mutation in the <i>DES</i> gene (c.364T &gt; C; p.Y122H), w...

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Bibliographic Details
Main Authors: Andreas Brodehl, Seyed Ahmad Pour Hakimi, Caroline Stanasiuk, Sandra Ratnavadivel, Doris Hendig, Anna Gaertner, Brenda Gerull, Jan Gummert, Lech Paluszkiewicz, Hendrik Milting
Format: Article
Language:English
Published: MDPI AG 2019-11-01
Series:Genes
Subjects:
cardiovascular genetics
restrictive cardiomyopathy
desmin
intermediate filaments
desmin-related myopathy
cardiomyopathy
desminopathy
Online Access:https://www.mdpi.com/2073-4425/10/11/918

Internet

https://www.mdpi.com/2073-4425/10/11/918

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