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Article

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.

Molecular genetics and metabolism - 1 May 2006

Bos J Martijn, Poley Rainer N, Ny Melissa, Tester David J, Xu Xiaolei, Vatta Matteo, Towbin Jeffrey A, Gersh Bernard J, Ommen Steve R, Ackerman Michael J

Abstract excerpt

BACKGROUND: TTN-encoded titin, CSRP3-encoded muscle LIM protein, and TCAP-encoded telethonin are Z-disc proteins essential for the structural organization of the cardiac sarcomere and the cardiomyocyte's stretch sensor. All three genes have been established as cardiomyopathy-associated genes for both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). Here, we sought to characterize the frequency,...

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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: 16352453
DOI: 10.1016/j.ymgme.2005.10.008
PMCID: PMC2756511

Genes

TCAP
TTN
CSRP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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