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Article

Distinct mechanisms drive divergent phenotypes in hypertrophic and dilated cardiomyopathy-associated TPM1 variants.

The Journal of clinical investigation - 16 Dec 2024

Halder Saiti S, Rynkiewicz Michael J, Kim Lynne, Barry Meaghan E, Zied Ahmed Ga, Sewanan Lorenzo R, Kirk Jonathan A, Moore Jeffrey R, Lehman William J, Campbell Stuart G

Abstract excerpt

Heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) represent starkly diverging clinical phenotypes, yet may be caused by mutations to the same sarcomeric protein. The precise mechanisms by which point mutations within the same gene bring about phenotypic diversity remain unclear. Our objective was to develop a mechanistic explanation of diverging phenotypes in two TPM1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 39436707
DOI: 10.1172/JCI179135
PMCID: PMC11645150

Genes

TPM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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