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Article

Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report.

Medicina (Kaunas, Lithuania) - 18 Mar 2021

Park Joonhong, Lee Jong-Min, Cho Jung Sun

Abstract excerpt

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), caused by the same MYBPC3 mutation in different individuals. A 74-year-old male was admitted for the evaluation...

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Identifiers

PMID: 33803538
DOI: 10.3390/medicina57030281
PMCID: PMC8002862

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