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Article

The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes.

International journal of cardiology - 15 Jan 2021

Dorsch Larissa M, Kuster Diederik W D, Jongbloed Jan D H, Boven Ludolf G, van Spaendonck-Zwarts Karin Y, Suurmeijer Albert J H, Vink Aryan, du Marchie Sarvaas Gideon J, van den Berg Maarten P, van der Velden Jolanda, Brundel Bianca J J M, van der Zwaag Paul A

Abstract excerpt

Background - Variants within the alpha-tropomyosin gene (TPM1) cause dominantly inherited cardiomyopathies, including dilated (DCM), hypertrophic (HCM) and restrictive (RCM) cardiomyopathy. Here we investigated whether TPM1 variants observed in DCM and HCM patients affect cardiomyocyte physiology differently. Methods - We identified a large family with DCM carrying a recently identified TPM1 gene variant (T201M)...

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Share to Cardiomyopathies
Share to Cardiomyopathy, Dilated

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32882290
DOI: 10.1016/j.ijcard.2020.08.101

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