Case Report: Lethal mitochondrial cardiomyopathy linked to a compound heterozygous variant of PARS2
This is the first case to reveal a novel compound heterozygous variant of <i>PARS2</i>-induced lethal cardiomyopathy with unreversed heart failure. Thus, this report enhances our understanding of mitochondrial tRNA function in maintaining heart function.
Authors
- Siyuan Jing
- Yifei Li (ORCID: https://orcid.org/0000-0002-3096-4287)
- Qiuyan Yao
- Mei Wu
Institutions
- Sichuan University (CN)
- West China Second University Hospital of Sichuan University (CN)
Publication Details
- Journal
- Frontiers in Cardiovascular Medicine
- Published
- 2024-08-26
- DOI
- https://doi.org/10.3389/fcvm.2024.1446055
- Citations
- 3
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.70
Funders
- National Natural Science Foundation of China