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Article

Functional analysis of myosin missense mutations in familial hypertrophic cardiomyopathy.

Proceedings of the National Academy of Sciences of the United States of America - 18 Jan 1994

Straceski A J, Geisterfer-Lowrance A, Seidman C E, Seidman J G, Leinwand L A

Abstract excerpt

To analyze potential functional consequences of myosin heavy chain (MHC) mutations identified in patients with familial hypertrophic cardiomyopathy (FHC), we have assessed the stability of the mutant MHCs and their ability to form thick filaments. Constructs encoding wild-type rat alpha MHC and s...

Topics

Animals
Cardiomyopathy, Hypertrophic
Cell Line
Chlorocebus aethiops
Humans
Microscopy, Electron
Myosins
Phenotype
Point Mutation
Rats
Solubility
Transfection

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Identifiers

PMID: 8290568
DOI: 10.1073/pnas.91.2.589
PMCID: PMC42994

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8290568-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Functional analysis of myosin missense mutations in familial hypertrophic cardiomyopathy.PMID 8290568Read ↗

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