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Cornel Ioan Bitea on Muck Rack

Cornel Ioan Bitea

As seen in: MDPI
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Articles

A Family with Myh7 Mutation and Different Forms of Cardiomyopathies

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By Bianca Iulia Catrina, Florina Batar, Georgiana Baltat, Cornel Ioan Bitea
| MDPI
Abstract : Background: Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are common heart muscle disorders that are caused by pathogenic variants in sarcomere protein genes. In this study, we describe a variant in the MHY7 gene, segregating in a family having three different phenotypes of cardiomyopathies. MYH7 encodes for the myosin heavy-chain β (MHC-β) isoform involved in cardiac muscle contractility.
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