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...

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Detalles Bibliográficos
Autores principales: Huang, Chunhui, Zheng, Yonghong, Zhang, Wei, Chen, Zhigang, Huang, Zhixin, Fang, Yuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251305/
https://www.ncbi.nlm.nih.gov/pubmed/35795207
http://dx.doi.org/10.3389/fgene.2022.894791

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251305/
https://www.ncbi.nlm.nih.gov/pubmed/35795207
http://dx.doi.org/10.3389/fgene.2022.894791

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