De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM), caused by mutations in thin filament proteins, manifests as moderate cardiac hypertrophy and is associated with sudden cardiac death (SCD). We identified a new de novo variant, c.656A>T (p.D219V), in the TPM1 gene encoding cardiac tropomyosin 1.1 (Tpm) in a youn...

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Detalles Bibliográficos
Autores principales: Tsaturyan, Andrey K., Zaklyazminskaya, Elena V., Polyak, Margarita E., Kopylova, Galina V., Shchepkin, Daniil V., Kochurova, Anastasia M., Gonchar, Anastasiia D., Kleymenov, Sergey Y., Koubasova, Natalia A., Bershitsky, Sergey Y., Matyushenko, Alexander M., Levitsky, Dmitrii I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9820293/
https://www.ncbi.nlm.nih.gov/pubmed/36613463
http://dx.doi.org/10.3390/ijms24010018

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