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

Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.

Journal of the American College of Cardiology - 3 Oct 2006

DeWitt Megan M, MacLeod Heather M, Soliven Betty, McNally Elizabeth M

Abstract excerpt

OBJECTIVES: The purpose of this research was to determine the phenotypic spectrum associated with phospholamban gene (PLN) mutations. BACKGROUND: Inheritance contributes to the development of dilated cardiomyopathy. Mutations in the gene encoding PLN have been associated with dilated cardiomyopat...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Aged
Share to Calcium-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathy, Dilated

Share to Cohort Studies

Share to DNA Mutational Analysis

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 17010801
DOI: 10.1016/j.jacc.2006.07.016

Genes

PLN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17010801-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.PMID 17010801Read ↗

Genetic landscape of phospholamban cardiomyopathiesSemantic proximity Read ↗

Age-Related Penetrance of Phospholamban p.Arg14del CardiomyopathySemantic proximity Read ↗

A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.Semantic proximity Read ↗

Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.Semantic proximity Read ↗

Protein Aggregation Is an Early Manifestation of Phospholamban p.(Arg14del)-Related Cardiomyopathy: Development of PLN-R14del-Related Cardiomyopathy.Semantic proximity Read ↗

Prevalence and cardiac phenotype of patients with a phospholamban mutationSemantic proximity Read ↗

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.Semantic proximity Read ↗

The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy.Semantic proximity Read ↗

Phospholamban cardiomyopathy: a Canadian perspective on a unique populationSemantic proximity Read ↗

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.Semantic proximity Read ↗

Reduced Penetrance and Variable Expression of Dilated Cardiomyopathy Associated With Homozygous Truncating Variants in NRAP Gene.Semantic proximity Read ↗

Early Mechanical Alterations in Phospholamban Mutation Carriers: Identifying Subclinical Disease Before Onset of Symptoms.Semantic proximity Read ↗

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