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Article

Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.

Clinical research in cardiology : official journal of the German Cardiac Society - 1 Dec 2011

Williams Tatjana, Machann Wolfram, Kühler Leif, Hamm Henning, Müller-Höcker Josef, Zimmer Michael, Ertl Georg, Ritter Oliver, Beer Meinrad, Schönberger Jost

Abstract excerpt

Two sons of a consanguineous marriage developed biventricular cardiomyopathy. One boy died of severe heart failure at the age of 6 years, the other was transplanted because of severe heart failure at the age of 10 years. In addition, focal palmoplantar keratoderma and woolly hair were apparent in both boys. As similar phenotypes have been described in Naxos disease and Carvajal syndrome, respectively, the genes...

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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: 21789513
DOI: 10.1007/s00392-011-0345-9
PMCID: PMC3222824

Genes

DSP
JUP

Provenance

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Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.PMID 21789513Read ↗

Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.Semantic proximity Read ↗

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Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndromeSemantic proximity Read ↗

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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 ↗

De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal diseaseSemantic proximity Read ↗

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.Semantic proximity Read ↗

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A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign.Semantic proximity Read ↗

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