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Article

[A case of restrictive cardiomyopathy associated with new TPM1 gene mutation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Oct 2022

Fu J, Sun D M, Zhang Y, Huang Y F, He Q, Zhang J

Abstract excerpt

11岁3月龄患儿因“发现身材矮小20 d余”就诊于武汉儿童医院。经体格检查、实验室检查、影像学检查等手段，确诊为限制型心肌病。基因检测结果发现该患儿TPM1基因c.541G>A（p.Glu181Lys）突变，国内外尚无该位点突变的相关报道，为新发突变。患儿入院后予口服卡托普利及螺内酯治疗，1周后出院，电话随访1年患儿暂未诉不适。.

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Source

Identifiers

PMID: 36207858
DOI: 10.3760/cma.j.cn112140-20220118-00064

Provenance

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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