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Article

Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity.

Molecular genetics and metabolism - 1 Jan 2000

Stefanelli Christopher B, Rosenthal Amnon, Borisov Andrei B, Ensing Gregory J, Russell Mark W

Abstract excerpt

Mutations in sarcomeric proteins can lead to either hypertrophic or dilated cardiomyopathy depending on their effects on the structural and functional properties of the contractile unit of the heart. Mutations in cardiac troponin T, which binds the calcium-responsive troponin complex to alpha-tropomyosin, have been shown to result in cardiac hypertrophy or cardiac dilatation and heart failure, depending on the...

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Identifiers

PMID: 15464434
DOI: 10.1016/j.ymgme.2004.04.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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