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A mutant tropomyosin that causes hypertrophic cardiomyopathy is expressed in vivo and associated with an increased calcium sensitivity.

Circulation research - 1 Jan 2000

Bottinelli R, Coviello D A, Redwood C S, Pellegrino M A, Maron B J, Spirito P, Watkins H, Reggiani C

Abstract excerpt

Mutant contractile protein genes that cause familial hypertrophic cardiomyopathy (FHC) are presumed to encode mutant proteins that interfere with contractile function. However, it has generally not been possible to show mutant protein expression and incorporation into the sarcomere in vivo. This...

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Mutation
Gene Expression
Calcium
Amino Acid Substitution
Biopsy
Muscle, Skeletal

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PMID: 9440709
DOI: 10.1161/01.res.82.1.106

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-9440709-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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