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Article

A novel desmoplakin mutation associated with left dominant arrhythmogenic cardiomyopathy and cutaneous phenotype.

Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese - 1 Jan 2000

Efthimiadis Georgios, Zegkos Thomas, Meditskou Soultana, Karamitsos Theodoros, Manolakos Emmanouil, Papoulidis Ioannis, Orru Sandro, Cadeddu Dessalvi C, Karvounis Haralambos, Parcharidou Despoina

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Share to Arrhythmogenic Right Ventricular Dysplasia
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PMID: 32387596
DOI: 10.1016/j.hjc.2020.04.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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A novel desmoplakin mutation associated with left dominant arrhythmogenic cardiomyopathy and cutaneous phenotype.PMID 32387596Read ↗

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

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A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review.Semantic 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 ↗

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Desmoplakin cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy: two distinct forms of cardiomyopathy?Semantic proximity Read ↗

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

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