Whole-exome sequencing revealed a novel Troponin T2 in a pediatric patient with severe isolated left ventricular noncompaction cardiomyopathy-Reference-Cited by-同舟云学术

Whole-exome sequencing revealed a novel Troponin T2 in a pediatric patient with severe isolated left ventricular noncompaction cardiomyopathy

Published:2023-04-19 Issue:7 Volume:116 Page:579-581
ISSN:1460-2725
Container-title:QJM: An International Journal of Medicine
language:en
Short-container-title:

Author:

Wang L¹²,Gong K¹²,Guo H¹²,Luo Y¹²,Liu R¹²,Xie T¹²,Yao Y³,Xie L¹²^ORCID

Affiliation:

1. Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Central South University , Changsha, PR China

2. The Clinical Center for Gene Diagnosis and Therapy of The State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, Central South University , Changsha, Hunan, PR China

3. Department of Blood Transfusion, The Second Xiangya Hospital of Central South University, Central South University , Changsha, PR China

Funder

National Natural Science Foundation of China

National Natural Science Foundation of Hunan

Scientific research plan of the Hunan Provincial Health Commission

Hunan Provincial Natural Science Foundation of China

Publisher

Oxford University Press (OUP)

Subject

General Medicine

Link

https://academic.oup.com/qjmed/advance-article-pdf/doi/10.1093/qjmed/hcad058/50147429/hcad058.pdf

Reference6 articles.

1. Mutations in sarcomere protein genes in left ventricular noncompaction;Klaassen;Circulation,2008

2. Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation;Luedde;Cardiovasc Res,2010

3. Case report of left ventricular noncompaction cardiomyopathy characterized by undulating phenotypes in adult patients;Miyake;Int Heart J,2021

4. [Clinical manifestations and gene mutation analysis of children with noncompaction of the ventricular myocardium: an analysis of 6 cases];Zhang;Zhongguo Dang Dai Er Ke Za Zhi,2021

5. Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region;Palm;Biophys J,2001