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Article

Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family.

Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih - 20 Mar 2016

Ruan Yan-Ping, Lu Chao-Xia, Zhao Xiao-Yi, Liang Rui-Juan, Lian Hui, Routledge Michael, Wu Wei, Zhang Xue, Fan Zhong-Jie

Abstract excerpt

Objective To identify the pathogenic variant responsible for restrictive cardiomyopathy (RCM) in a Chinese family.Methods Next generation sequencing was used for detecting the mutation and Results verified by sequencing. We used restriction enzyme digestion to test the mutation in the family members and 200 unrelated normal subjects without any cardiac inherited diseases when the mutation was identified.Results...

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Identifiers

PMID: 28031081
DOI: 10.1016/s1001-9294(16)30015-3

Genes

TNNI3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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