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

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

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...

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Bibliographic Details
Main Authors: Olga Kulikova, Andreas Brodehl, Anna Kiseleva, Roman Myasnikov, Alexey Meshkov, Caroline Stanasiuk, Anna Gärtner, Mikhail Divashuk, Evgeniia Sotnikova, Sergey Koretskiy, Maria Kharlap, Viktoria Kozlova, Elena Mershina, Polina Pilus, Valentin Sinitsyn, Hendrik Milting, Sergey Boytsov, Oxana Drapkina
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Genes
Subjects:
cardiomyopathy
desmin
<i>DES</i>
desminopathy
desmoplakin
<i>DSP</i>
Online Access:https://www.mdpi.com/2073-4425/12/1/121

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https://www.mdpi.com/2073-4425/12/1/121

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