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

A novel mutation of the LMNA gene in a family with dilated cardiomyopathy, conduction system disease, and sudden cardiac death of young females.

Molecular and cellular biochemistry - 1 Oct 2013

Chen Wenting, Huo Jianhua, Ma Aiqun, Bai Ling, Liu Ping

Abstract excerpt

The LMNA gene, which encodes the nuclear envelope protein lamin A/C, is considered to be the most common autosomal disease gene associated with familial dilated cardiomyopathy. To date, each mutation of the LMNA gene has been associated with a specific disease phenotype. Clinical data, family histories, and blood samples were collected from 27 biological members of a family with dilated cardiomyopathy,...

Read the complete abstract on PubMed

Topics

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

Share to Arrhythmias, Cardiac
Share to Brugada Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiac Conduction System Disease

Share to Cardiomyopathy, Dilated

Share to Death, Sudden, Cardiac

Share to Frameshift Mutation

Share to Heart Conduction System

Share to Lamin Type A

Source

Identifiers

PMID: 23793583
DOI: 10.1007/s11010-013-1734-3

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation of the LMNA gene in a family with dilated cardiomyopathy, conduction system disease, and sudden cardiac death of young females.PMID 23793583Read ↗

Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.Semantic proximity Read ↗

A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.Semantic proximity Read ↗

An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report.Semantic proximity Read ↗

Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.Semantic proximity Read ↗

A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.Semantic proximity Read ↗

A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death.Semantic proximity Read ↗

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.Semantic proximity Read ↗

Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations.Semantic proximity Read ↗

Lamin A/C cardiomyopathy presenting as high-grade atrioventricular (AV) block, atrial fibrillation, heart failure and ventricular tachycardia in a single-family cluster.Semantic proximity Read ↗

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.Semantic proximity Read ↗

Novel mutations in LMNA A/C gene and associated phenotypes.Semantic proximity Read ↗

Familial dilated cardiomyopathy with a novel LMNA mutation (p.R429C): a case report.Semantic proximity Read ↗

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