Coincidence of ANKRD1, TMEM43and PKP2 mutations in patient with ARVD

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F14%3A00077661" target="_blank" >RIV/00216224:14110/14:00077661 - isvavai.cz</a>

Alternative codes found

RIV/00159816:_____/14:00061399

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Coincidence of ANKRD1, TMEM43and PKP2 mutations in patient with ARVD

Original language description

Arrhythmogenic right ventricular dysplasia (ARVD) is a serious genetic disorder, usually with autosomal dominant inheritance, which can lead to sudden cardiac death in young individuals and athletes. The genes known to be associated with ARVD are five genes for desmosome proteins plus another three for non-desmosomal proteins. Here we present a patient with serious symptoms of ARVD (including ventricular tachycardia and sudden cardiac arrest), who carries three potentially pathological mutations in three diffe rent genes. Two missense mutations in ANKRD1 and TMEM43 gene respectively and one mutation, in PKP2, which causes aberrant splicing were detected. We hypothesized that the combination of these three pathological mutations could be the reason forthe lethal course of the disease. Moreover, we assume that mutations in ANKRD1 gene, which were previously shown to be responsible for dilated cardiomyopathy and hypertrophic cardiomyopathy, could be associated also with ARVD.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FA - Cardiovascular diseases including cardio-surgery

OECD FORD branch

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Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Experimental and Clinical Cardiology

ISSN

1205-6626

e-ISSN

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Volume of the periodical

20

Issue of the periodical within the volume

1

Country of publishing house

CA - CANADA

Number of pages

4

Pages from-to

2221-2224

UT code for WoS article

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EID of the result in the Scopus database

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