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Article

A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder.

Circulation research - 31 Mar 2017

Li Lili, Bainbridge Matthew Neil, Tan Yanli, Willerson James T, Marian Ali J

Abstract excerpt

RATIONALE: Hypertrophic cardiomyopathy (HCM) is a prototypic single-gene disease caused mainly by mutations in genes encoding sarcomere proteins. Despite the remarkable advances, the causal genes in ≈40% of the HCM cases remain unknown, typically in small families and sporadic cases, wherein cosegregation could not be established. OBJECTIVE: To test the hypothesis that the missing causal genes in HCM is, in part,...

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Source

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Identifiers

PMID: 28223422
DOI: 10.1161/CIRCRESAHA.116.310559
PMCID: PMC5380229

Genes

ALPK3
TTN
MYL2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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