Article
De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy.
International journal of molecular sciences - 20 Dec 2022
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
Abstract excerpt
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 young SCD victim with post-mortem-diagnosed HCM. We produced recombinant D219V Tpm1.1 and studied its structural and...
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