Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8559" target="_blank" >RIV/00064203:_____/12:8559 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/12:8559 RIV/00064173:_____/12:43904160 RIV/00216208:11120/12:43904160

Result on the web

<a href="http://www.ncbi.nlm.nih.gov/pubmed/22455086" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/22455086</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy

Original language description

Introduction Hypertrophic cardiomyopathy (HCM) is a cardiovascular disease with autosomal dominant inheritance. It is caused by mutations in the genes coding for structural and/or regulatory proteins found in the sarcomere of cardiomyocytes. A group of genes, including the heavy chain of beta-myosin (MYH7), myosin binding protein C (MYBPC3), cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) are frequently affected by causal mutations. While exact mutation frequency data has been obtained for various populations, no screening has been reported for Central European populations. Patients and methods We performed a complete sequencing of MYH7, MYBPC3,TNNI3 and TNNT2 genes in 100 HCM patients. Results We discovered mutations in a total of 40 patients (40%), including 4 patients with double mutations. A total of 35 different mutation types were detected, of which 17 were novel. The contributions from individual genes were: 24 mutations in MYBPC3 (54.5%), 14 in MYH7 (31.8%), 4 in TNNI

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

<a href="/en/project/NR9164" target="_blank" >NR9164: Clinical and functional correlates of hypertrophic cardiomyopathy in Czech population</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2012

Confidentiality

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

Name of the periodical

Acta Cardiologica

ISSN

0001-5385

e-ISSN

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Volume of the periodical

67

Issue of the periodical within the volume

1

Country of publishing house

BE - BELGIUM

Number of pages

7

Pages from-to

23-29

UT code for WoS article

000314086200004

EID of the result in the Scopus database

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