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Article

The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy.

Genes - 19 Jan 2021

Kulikova Olga, Brodehl Andreas, Kiseleva Anna, Myasnikov Roman, Meshkov Alexey, Stanasiuk Caroline, Gärtner Anna, Divashuk Mikhail, Sotnikova Evgeniia, Koretskiy Sergey, Kharlap Maria, Kozlova Viktoria, Mershina Elena, Pilus Polina, Sinitsyn Valentin, Milting Hendrik, Boytsov Sergey, Drapkina Oxana

Abstract excerpt

Here, we present a small Russian family, where the index patient received a diagnosis of left-ventricular non-compaction cardiomyopathy (LVNC) in combination with a skeletal myopathy. Clinical follow-up analysis revealed a LVNC phenotype also in her son. Therefore, we applied a broad next-generation sequencing gene panel approach for the identification of the underlying mutation. Interestingly, DES-p.A337P was...

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Identifiers

PMID: 33478057
DOI: 10.3390/genes12010121
PMCID: PMC7835827

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