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[A Chinese pedigree with hypertrophic cardiomyopathy caused by rare homozygous mutation of TNNI3 gene p.Arg162Gln].

Zhonghua xin xue guan bing za zhi - 24 Dec 2019

Duan L Q, Li Q, Ren Y, Xu J R, Han Q H

Abstract excerpt

肥厚型心肌病（HCM）是一种遗传性心肌病，TNNI3基因为其致病基因之一，相关病例我国少见报道。本研究报道中国汉族一HCM家系，先证者为TNNI3：p.Arg162Gln纯合突变，其发病早，心功能差，随访期间晕厥3次并植入永久起搏器进行治疗。先证者父母、弟弟及女儿均为杂合突变，目前均无明显临床症状。纯合突变致HCM较为罕见，该病例丰富了HCM的基因和临床表型谱。.

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Source

Identifiers

PMID: 31877599
DOI: 10.3760/cma.j.issn.0253-3758.2019.12.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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