The Double Mutation <i>DSG2</i>-p.S363X and <i>TBX20</i>-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report

The Double Mutation <i>DSG2</i>-p.S363X and <i>TBX20</i>-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report

Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left ventricular dysfunction, which is characterized by a two-layer structure of the myocardium and an increased number of trabeculae. The study of familial forms of LVNC is helpful for risk prediction and...

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Bibliographic Details
Main Authors: Roman Myasnikov, Andreas Brodehl, Alexey Meshkov, Olga Kulikova, Anna Kiseleva, Greta Marie Pohl, Evgeniia Sotnikova, Mikhail Divashuk, Marina Klimushina, Anastasia Zharikova, Maria Pokrovskaya, Sergey Koretskiy, Maria Kharlap, Elena Mershina, Valentin Sinitsyn, Elena Basargina, Leila Gandaeva, Vladimir Barskiy, Sergey Boytsov, Hendrik Milting, Oxana Drapkina
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:International Journal of Molecular Sciences
Subjects:
cardiomyopathy
desmoglein-2
<i>DSG2</i>
left ventricular non-compaction cardiomyopathy
cardiovascular genetics
desmosomes
Online Access:https://www.mdpi.com/1422-0067/22/13/6775

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https://www.mdpi.com/1422-0067/22/13/6775

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