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Article

Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population.

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 Sept 2012

Brito Dulce, Miltenberger-Miltenyi Gabriel, Vale Pereira Sónia, Silva Doroteia, Diogo António Nunes, Madeira Hugo

Abstract excerpt

BACKGROUND: Sarcomeric hypertrophic cardiomyopathy has heterogeneous phenotypic expressions, of which sudden cardiac death is the most feared. A genetic diagnosis is essential to identify subjects at risk in each family. The spectrum of disease-causing mutations in the Portuguese population is unknown. METHODS: Seventy-seven unrelated probands with hypertrophic cardiomyopathy were systematically screened for...

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Source

Identifiers

PMID: 22857948
DOI: 10.1016/j.repc.2011.12.020

Genes

MYBPC3
MYH7
TNNI3
TNNT2
MYL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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