The Desmin (DES) 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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7835827/
https://www.ncbi.nlm.nih.gov/pubmed/33478057
http://dx.doi.org/10.3390/genes12010121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7835827/
https://www.ncbi.nlm.nih.gov/pubmed/33478057
http://dx.doi.org/10.3390/genes12010121

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