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Article

Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.

Cardiovascular research - 1 Mar 2008

Revera Miriam, van der Merwe Lize, Heradien Marshall, Goosen Althea, Corfield Valerie A, Brink Paul A, Moolman-Smook Johanna C

Abstract excerpt

AIMS: The validity of genotype:phenotype correlation studies in human hypertrophic cardiomyopathy (HCM) has recently been questioned, yet animal models and in vitro studies suggest distinct effects for different mutations. The aims of this study were to investigate whether distinct HCM-mutations have different consequences for cardiac structure and function in the absence of the confounding effects of...

Topics

Adenosine Triphosphate
Adult
Animals
Calcium Signaling
Cardiac Myosins
Cardiomyopathy, Hypertrophic
Echocardiography, Doppler
Female
Genotype
Heart Ventricles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Middle Aged

Muscle Strength

Mutation

Myocardial Contraction

Myocardium

Myosin Heavy Chains

Source

Identifiers

PMID: 18029407
DOI: 10.1093/cvr/cvm075

Genes

MYH7
TNNT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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