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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Detalles Bibliográficos
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
Descripción
Sumario: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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