Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.

Journal of the American College of Cardiology - 16 Mar 2010

Chiu Christine, Bagnall Richard D, Ingles Jodie, Yeates Laura, Kennerson Marina, Donald Jennifer A, Jormakka Mika, Lind Joanne M, Semsarian Christopher

Abstract excerpt

OBJECTIVES: This study describes a genome-wide linkage analysis of a large family with clinically heterogeneous hypertrophic cardiomyopathy (HCM). BACKGROUND: Familial HCM is a disorder characterized by genetic heterogeneity. In as many as 50% of HCM cases, the genetic cause remains unknown, suggesting that other genes may be involved. METHODS: Clinical evaluation, including clinical history, physical...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Actinin
Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathy, Hypertrophic, Familial

Share to Genetic Linkage

Share to Pedigree

Share to Ultrasonography

Source

Identifiers

PMID: 20022194
DOI: 10.1016/j.jacc.2009.11.016

Genes

ACTN2

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.PMID 20022194Read ↗

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.Semantic proximity Read ↗

Cardiomyopathy-Associated Variants Alter the Structure and Function of the α-Actinin-2 Actin-Binding DomainSemantic proximity Read ↗

Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain.Semantic proximity Read ↗

Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy.Semantic proximity Read ↗

Novel α-Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial ArrhythmiasSemantic proximity Read ↗

Comprehensive biophysical and structural profiling of alpha-actinin-2 variants reveals mechanistic diversity in hypertrophic cardiomyopathy.Semantic proximity Read ↗

Mono- and bi-allelic protein truncating variants in alpha-actinin 2 cause cardiomyopathy through distinct mechanismsSemantic proximity Read ↗

Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.Semantic proximity Read ↗

α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathySemantic proximity Read ↗

Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.Semantic proximity Read ↗

Mutation update for the ACTN2 gene.Semantic proximity Read ↗

Familial Dilated Cardiomyopathy Locus Maps to Chromosome 2q31Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.