• ISSN 1674-8301
  • CN 32-1810/R
Volume 28 Issue 1
Jan.  2014
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Article Contents
Yan Chen, Shiwei Yang, Jun Li, Gannan Wang, Yuming Qin, Daowu Wang, Kejiang Cao. Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene[J]. The Journal of Biomedical Research, 2014, 28(1): 59-63. doi: 10.7555/JBR.28.20120105
Citation: Yan Chen, Shiwei Yang, Jun Li, Gannan Wang, Yuming Qin, Daowu Wang, Kejiang Cao. Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene[J]. The Journal of Biomedical Research, 2014, 28(1): 59-63. doi: 10.7555/JBR.28.20120105

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

doi: 10.7555/JBR.28.20120105
Funds:

This work was funded by the Natural Science Foundation of China (No. 81000076), and the Youth Education Program to Shi-wei YANG supported by Nanjing Health Bureau. The authors wish to thank all the study participants.

  • Received: 2012-10-16
  • Issue Date: 2014-01-27
  • Pediatric restrictive cardiomyopathy is rare and most commonly idiopathic in origin. Here, we applied a candi-date 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 im-portant role in idiopathic pediatric restrictive cardiomyopathy.

     

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