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Article

Familial and sporadic hypertrophic myopathy: differences and similarities in a genotyped population. A long follow-up study.

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology - 1 Feb 2008

Brito Dulce, Richard Pascale, Komajda Michel, Madeira Hugo

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a genetic disease associated with mutations in genes encoding cardiac sarcomere proteins. A mutation is identified in two-thirds of cases, and more frequently in familial forms. Doubts remain concerning the true identity of the sporadic form. OBJECTIVE: To compare, in a genotyped population, the phenotypic expression of the disease over time in patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18488914

Genes

MYBPC3
MYH7
MYL2
TNNI3
TNNT2

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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