Low Prevalence and Variable Clinical Presentation of Troponin I and Troponin T Gene Mutation in Hypertropic Cardiomyopathy

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064173%3A_____%2F09%3A%230000038" target="_blank" >RIV/00064173:_____/09:#0000038 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Result language
čeština
Original language name
Low Prevalence and Variable Clinical Presentation of Troponin I and Troponin T Gene Mutation in Hypertropic Cardiomyopathy
Original language description
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutation in cardiac sarcomeric proteins. Troponin I (TNNNI3) and troponin T (TNNT2) are important parts of the sarcomere in heart muscle, and mutations in their genes are responsible for development of HCM.
Czech name
Low Prevalence and Variable Clinical Presentation of Troponin I and Troponin T Gene Mutation in Hypertropic Cardiomyopathy
Czech description
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutation in cardiac sarcomeric proteins. Troponin I (TNNNI3) and troponin T (TNNT2) are important parts of the sarcomere in heart muscle, and mutations in their genes are responsible for development of HCM.

Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
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
2009
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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