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

Chen Yan | Zendy; Shi-Wei Yang | Zendy; Jun Li | Zendy; Wang Gannan | Zendy; Qin Yuming | Zendy; Wang Daowu | Zendy; Kejiang Cao | Zendy

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

Author(s) -

Chen Yan,

Shi-Wei Yang,

Jun Li,

Wang Gannan,

Qin Yuming,

Wang Daowu,

Kejiang Cao

Publication year - 2014

Publication title -

journal of biomedical research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.617

H-Index - 31

eISSN - 2352-4685

pISSN - 1674-8301

DOI - 10.7555/jbr.28.20120105

Subject(s) - missense mutation , restrictive cardiomyopathy , medicine , cardiomyopathy , mutation , cardiology , gene , genetics , gene mutation , biology , heart failure

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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