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Article

Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.

Clinical genetics - 1 Nov 2008

Menon S C, Michels V V, Pellikka P A, Ballew J D, Karst M L, Herron K J, Nelson S M, Rodeheffer R J, Olson T M

Abstract excerpt

We identified a unique family with autosomal dominant heart disease variably expressed as restrictive cardiomyopathy (RCM), hypertrophic cardiomyopathy (HCM), and dilated cardiomyopathy (DCM), and sought to identify the molecular defect that triggered divergent remodeling pathways. Polymorphic DNA markers for nine sarcomeric genes for DCM and/or HCM were tested for segregation with disease. Linkage to eight genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18651846
DOI: 10.1111/j.1399-0004.2008.01062.x
PMCID: PMC2575134

Genes

TNNT2

Variants

Provenance

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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