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Article

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.

Circulation. Cardiovascular genetics - 1 Jun 2017

Ross Samantha Barratt, Bagnall Richard D, Ingles Jodie, Van Tintelen J Peter, Semsarian Christopher

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy is a genetically heterogeneous myocardial disease with >1000 causal variants identified. Nonunique variants account for disease in many families. We sought to characterize nonunique variants in Australian families and determine whether they arise from common ancestral mutations or recurrent mutation events. METHODS AND RESULTS: Genetic test results of 467 index patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28615295
DOI: 10.1161/CIRCGENETICS.116.001671

Genes

MYBPC3
MYH7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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