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Article

Distinct Cellular Basis for Early Cardiac Arrhythmias, the Cardinal Manifestation of Arrhythmogenic Cardiomyopathy, and the Skin Phenotype of Cardiocutaneous Syndromes.

Circulation research - 8 Dec 2017

Karmouch Jennifer, Zhou Qiong Q, Miyake Christina Y, Lombardi Raffaella, Kretzschmar Kai, Bannier-Hélaouët Marie, Clevers Hans, Wehrens Xander H T, Willerson James T, Marian Ali J

Abstract excerpt

RATIONALE: Arrhythmogenic cardiomyopathy is caused primarily by mutations in genes encoding desmosome proteins. Ventricular arrhythmias are the cardinal and typically early manifestations, whereas myocardial fibroadiposis is the pathological hallmark. Homozygous DSP (desmoplakin) and JUP (junction protein plakoglobin) mutations are responsible for a subset of patients with arrhythmogenic cardiomyopathy who...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29018034
DOI: 10.1161/CIRCRESAHA.117.311876
PMCID: PMC5722680

Genes

CSPG4
DSP
JUP

Provenance

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