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

doi:10.3390/ijms22136775

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Article

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

International journal of molecular sciences - 24 Jun 2021

Myasnikov Roman, Brodehl Andreas, Meshkov Alexey, Kulikova Olga, Kiseleva Anna, Pohl Greta Marie, Sotnikova Evgeniia, Divashuk Mikhail, Klimushina Marina, Zharikova Anastasia, Pokrovskaya Maria, Koretskiy Sergey, Kharlap Maria, Mershina Elena, Sinitsyn Valentin, Basargina Elena, Gandaeva Leila, Barskiy Vladimir, Boytsov Sergey, Milting Hendrik, Drapkina Oxana

Abstract excerpt

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 genetic counseling of relatives. Here, we present a family consisting of three members with LVNC. Using a...

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PMID: 34202524
DOI: 10.3390/ijms22136775
PMCID: PMC8268202

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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