Clinical Exome Sequencing Revealed a De Novo <i>FLNC</i> Mutation in a Child with Restrictive Cardiomyopathy

Clinical Exome Sequencing Revealed a De Novo <i>FLNC</i> Mutation in a Child with Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare disease of the myocardium caused by mutations in several genes including <i>TNNT2, DES, TNNI3, MYPN</i> and <i>FLNC</i>. Individuals affected by RCM often develop heart failure at a young age, requiring early heart transplantation. A...

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Bibliographic Details
Main Authors: Francesca Girolami, Silvia Passantino, Adelaide Ballerini, Alessia Gozzini, Giulio Porcedda, Iacopo Olivotto, Silvia Favilli
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Cardiogenetics
Subjects:
restrictive cardiomyopathy
exome sequencing
<i>FLNC</i>
Online Access:https://www.mdpi.com/2035-8148/12/2/19

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