Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene.

doi:10.1016/s0735-1097(96)00538-4

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Article

Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene.

Journal of the American College of Cardiology - 1 Mar 1997

Coviello D A, Maron B J, Spirito P, Watkins H, Vosberg H P, Thierfelder L, Schoen F J, Seidman J G, Seidman C E

Abstract excerpt

OBJECTIVES: We studied the clinical and genetic features of familial hypertrophic cardiomyopathy (FHC) caused by an Asp175Asn mutation in the alpha-tropomyosin gene in affected subjects from three unrelated families. BACKGROUND: Correlation of genotype and phenotype has provided important informa...

Topics

Adolescent
Adult
Aged
Cardiomyopathy, Hypertrophic
Echocardiography
Female
Genetic Linkage
Haplotypes
Humans
Male
Middle Aged
Mutation
Myocardium
Tropomyosin

Source

Open in PubMed

Identifiers

PMID: 9060904
DOI: 10.1016/s0735-1097(96)00538-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9060904-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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