Novel Mutation Glu98Lys in Cardiac Tropomyosin Alters Its Structure and Impairs Myocardial Relaxation

We characterized a novel genetic variant c.292G > A (p.E98K) in the TPM1 gene encoding cardiac tropomyosin 1.1 isoform (Tpm1.1), found in a proband with a phenotype of complex cardiomyopathy with conduction dysfunction and slow progressive neuromuscular involvement. To understand the molecular me...

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Detalles Bibliográficos
Autores principales: Matyushenko, Alexander M., Nefedova, Victoria V., Kochurova, Anastasia M., Kopylova, Galina V., Koubassova, Natalia A., Shestak, Anna G., Yampolskaya, Daria S., Shchepkin, Daniil V., Kleymenov, Sergey Y., Ryabkova, Natalia S., Katrukha, Ivan A., Bershitsky, Sergey Y., Zaklyazminskaya, Elena V., Tsaturyan, Andrey K., Levitsky, Dmitrii I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419091/
https://www.ncbi.nlm.nih.gov/pubmed/37569730
http://dx.doi.org/10.3390/ijms241512359

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419091/
https://www.ncbi.nlm.nih.gov/pubmed/37569730
http://dx.doi.org/10.3390/ijms241512359

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