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

Novel truncating desmoplakin mutation as a potential cause of sudden cardiac death in a family.

Polskie Archiwum Medycyny Wewnetrznej - 27 Sept 2016

Foss-Nieradko Bogna, Franaszczyk Maria, Śpiewak Mateusz, Oręziak Artur, Płoski Rafał, Bilińska Zofia T

Abstract excerpt

No abstract is available from the source.

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 Death, Sudden, Cardiac
Share to Desmoplakins
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Genetic Predisposition to Disease

Share to Pedigree

Source

Identifiers

PMID: 27698334
DOI: 10.20452/pamw.3567

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel truncating desmoplakin mutation as a potential cause of sudden cardiac death in a family.PMID 27698334Read ↗

A novel desmoplakin mutation associated with left dominant arrhythmogenic cardiomyopathy and cutaneous phenotype.Semantic proximity Read ↗

A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome.Semantic proximity Read ↗

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hairSemantic proximity Read ↗

Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in DesmoplakinSemantic proximity Read ↗

Insights from a Desmoplakin Mutation Identified in Lethal Acantholytic Epidermolysis BullosaSemantic proximity Read ↗

Acute Myocarditis as the Initial Presentation of Desmoplakin Mutation - Broadening the Differential Diagnosis.Semantic proximity Read ↗

Variant location is a novel risk factor for individuals with arrhythmogenic cardiomyopathy due to a desmoplakin (<i>DSP</i>) truncating variantSemantic proximity Read ↗

Mutation in Human Desmoplakin Domain Binding to Plakoglobin Causes a Dominant Form of Arrhythmogenic Right Ventricular CardiomyopathySemantic proximity Read ↗

Early Lethality Due to a Novel Desmoplakin Variant Causing Infantile Epidermolysis Bullosa Simplex With Fragile Skin, Aplasia Cutis Congenita, and Arrhythmogenic Cardiomyopathy.Semantic proximity Read ↗

Left-Dominant Arrhythmogenic Cardiomyopathy, Palmoplantar Keratoderma, and Curly Hair Associated With a Rare Autosomal Dominant Truncating Variant in Desmoplakin.Semantic proximity Read ↗

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating VariantSemantic proximity Read ↗

Autosomal-dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in-frame DSP nonsense mutation.Semantic proximity Read ↗

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