Phenotypic Diversity of Cardiomyopathy Caused by an <i>MYBPC3</i> Frameshift Mutation in a Korean Family: A Case Report

Phenotypic Diversity of Cardiomyopathy Caused by an <i>MYBPC3</i> Frameshift Mutation in a Korean Family: A Case Report

Restrictive cardiomyopathy (RCM) is one of the rarest cardiac disorders, with a very poor prognosis, and heart transplantation is the only long-term treatment of choice. We reported that a Korean family presented different cardiomyopathies, such as idiopathic RCM and hypertrophic cardiomyopathy (HCM...

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Bibliographic Details
Main Authors:	Joonhong Park, Jong-Min Lee, Jung Sun Cho
Format:	Article
Language:	English
Published:	MDPI AG 2021-03-01
Series:	Medicina
Subjects:	restrictive cardiomyopathy hypertrophic cardiomyopathy phenotypic diversity cardiac magnetic resonance image <i>MYBPC3</i> mutation whole exome sequencing
Online Access:	https://www.mdpi.com/1648-9144/57/3/281

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