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Article

A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.

BMC medical genomics - 4 May 2023

Pantou Malena P, Gourzi Polyxeni, Vlagkouli Vasiliki, Papatheodorou Efstathios, Tsoutsinos Alexandros, Nyktari Eva, Degiannis Dimitrios, Anastasakis Aris

Abstract excerpt

BACKGROUND: Homozygous truncating mutations located in the C-terminal region of the desmoplakin gene (DSP) are known to mainly cause Carvajal syndrome, an autosomal recessive syndromic form of arrhythmogenic cardiomyopathy with an extra-cardiac cutaneous phenotype. CASE PRESENTATION: Here we describe a female proband with a documented arrhythmogenic left ventricular cardiomyopathy and a syncopal episode at the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37143080
DOI: 10.1186/s12920-023-01527-6
PMCID: PMC10158133

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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