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Article

Mutation location of HCM-causing troponin T mutations defines the degree of myofilament dysfunction in human cardiomyocytes.

Journal of molecular and cellular cardiology - 1 Jan 2021

Schuldt Maike, Johnston Jamie R, He Huan, Huurman Roy, Pei Jiayi, Harakalova Magdalena, Poggesi Corrado, Michels Michelle, Kuster Diederik W D, Pinto Jose R, van der Velden Jolanda

Abstract excerpt

BACKGROUND: The clinical outcome of hypertrophic cardiomyopathy patients is not only determined by the disease-causing mutation but influenced by a variety of disease modifiers. Here, we defined the role of the mutation location and the mutant protein dose of the troponin T mutations I79N, R94C and R278C. METHODS AND RESULTS: We determined myofilament function after troponin exchange in permeabilized single human...

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Identifiers

PMID: 33148509
DOI: 10.1016/j.yjmcc.2020.10.006
PMCID: PMC10616699

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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