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[A case of restrictive cardiomyopathy associated with new TPM1 gene mutation]
- Source :
- Zhonghua er ke za zhi = Chinese journal of pediatrics. 60(10)
- Publication Year :
- 2022
-
Abstract
- 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.541GA（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。.
Details
- ISSN :
- 05781310
- Volume :
- 60
- Issue :
- 10
- Database :
- OpenAIRE
- Journal :
- Zhonghua er ke za zhi = Chinese journal of pediatrics
- Accession number :
- edsair.pmid..........1d272cb86e98f22600462db5a19fcc74