Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene

Pediatric restrictive cardiomyopathy is rare and most commonly idiopathic in origin. Here, we applied a candidate gene approach and identified a missense mutation in the cardiac troponin I gene in a 12-year-old Chinese girl with restrictive cardiomyopathy. This study indicates that mutation in sarco...

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Autores principales: Chen, Yan, Yang, Shiwei, Li, Jun, Wang, Gannan, Qin, Yuming, Wang, Daowu, Cao, Kejiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Editorial Department of Journal of Biomedical Research 2014
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904176/
https://www.ncbi.nlm.nih.gov/pubmed/24474965
http://dx.doi.org/10.7555/JBR.28.20120105
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author Chen, Yan
Yang, Shiwei
Li, Jun
Wang, Gannan
Qin, Yuming
Wang, Daowu
Cao, Kejiang
author_facet Chen, Yan
Yang, Shiwei
Li, Jun
Wang, Gannan
Qin, Yuming
Wang, Daowu
Cao, Kejiang
author_sort Chen, Yan
collection PubMed
description Pediatric restrictive cardiomyopathy is rare and most commonly idiopathic in origin. Here, we applied a candidate gene approach and identified a missense mutation in the cardiac troponin I gene in a 12-year-old Chinese girl with restrictive cardiomyopathy. This study indicates that mutation in sarcomere protein genes may play an important role in idiopathic pediatric restrictive cardiomyopathy.
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spelling pubmed-39041762014-01-28 Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene Chen, Yan Yang, Shiwei Li, Jun Wang, Gannan Qin, Yuming Wang, Daowu Cao, Kejiang J Biomed Res Research Paper Pediatric restrictive cardiomyopathy is rare and most commonly idiopathic in origin. Here, we applied a candidate gene approach and identified a missense mutation in the cardiac troponin I gene in a 12-year-old Chinese girl with restrictive cardiomyopathy. This study indicates that mutation in sarcomere protein genes may play an important role in idiopathic pediatric restrictive cardiomyopathy. Editorial Department of Journal of Biomedical Research 2014-01 2013-04-20 /pmc/articles/PMC3904176/ /pubmed/24474965 http://dx.doi.org/10.7555/JBR.28.20120105 Text en © 2014 by the Journal of Biomedical Research. All rights reserved.
spellingShingle Research Paper
Chen, Yan
Yang, Shiwei
Li, Jun
Wang, Gannan
Qin, Yuming
Wang, Daowu
Cao, Kejiang
Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene
title Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene
title_full Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene
title_fullStr Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene
title_full_unstemmed Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene
title_short Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene
title_sort pediatric restrictive cardiomyopathy due to a heterozygous mutation of the tnni3 gene
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904176/
https://www.ncbi.nlm.nih.gov/pubmed/24474965
http://dx.doi.org/10.7555/JBR.28.20120105
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