Case Report: A Chinese Family of Hypertrophic Cardiomyopathy Caused by a Novel Splicing Mutation in the FLNC Gene

Case Report: A Chinese Family of Hypertrophic Cardiomyopathy Caused by a Novel Splicing Mutation in the FLNC Gene

Hypertrophic cardiomyopathy (HCM) is a type of primary cardiomyopathy with genetic etiology, and it carries a high risk of diastolic dysfunction, heart failure, and malignant arrhythmias. We reported the first familial HCM in China, caused by a novel FLNC splicing mutation. We performed duo exome se...

Full description

Bibliographic Details
Main Authors: Chunhui Huang, Yonghong Zheng, Wei Zhang, Zhigang Chen, Zhixin Huang, Yuan Fang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Genetics
Subjects:
cardiomyopathy
hypertrophic
FLNC
splicing mutation
exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.894791/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.894791/full

Similar Items