Different Phenotypes of Sarcomeric <i>MyBPC3</i>-Cardiomyopathy in the Same Family: Hypertrophic, Left Ventricular Noncompaction and Restrictive Phenotypes (in Association with Sarcoidosis)

Different Phenotypes of Sarcomeric <i>MyBPC3</i>-Cardiomyopathy in the Same Family: Hypertrophic, Left Ventricular Noncompaction and Restrictive Phenotypes (in Association with Sarcoidosis)

The same variants in sarcomeric genes can lead to different cardiomyopathies within the same family. This gave rise to the concept of a continuum of sarcomeric cardiomyopathies. However, the manifestations and evolution of these cardiomyopathies in pathogenic variant carriers, including members of t...

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Bibliographic Details
Main Authors: Olga Blagova, Ekaterina Pavlenko, Vsevolod Sedov, Evgeniya Kogan, Margarita Polyak, Elena Zaklyazminskaya, Yulia Lutokhina
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Genes
Subjects:
hypertrophic cardiomyopathy
restrictive cardiomyopathy
left ventricular noncompaction
sarcoidosis
<i>MyBPC3</i>
truncating pathogenic variants
Online Access:https://www.mdpi.com/2073-4425/13/8/1344

Internet

https://www.mdpi.com/2073-4425/13/8/1344

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