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

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 <i>TPM1</i> 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 understa...

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Bibliographic Details
Main Authors: Alexander M. Matyushenko, Victoria V. Nefedova, Anastasia M. Kochurova, Galina V. Kopylova, Natalia A. Koubassova, Anna G. Shestak, Daria S. Yampolskaya, Daniil V. Shchepkin, Sergey Y. Kleymenov, Natalia S. Ryabkova, Ivan A. Katrukha, Sergey Y. Bershitsky, Elena V. Zaklyazminskaya, Andrey K. Tsaturyan, Dmitrii I. Levitsky
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:International Journal of Molecular Sciences
Subjects:
tropomyosin
cardiomyopathy-causing mutations
complex cardiomyopathy
circular dichroism
differential scanning calorimetry
in vitro motility assay
Online Access:https://www.mdpi.com/1422-0067/24/15/12359

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https://www.mdpi.com/1422-0067/24/15/12359

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