Novel biallelic TK2 mutations cause mitochondrial DNA depletion syndrome with infantile early-onset lipid storage myopathy
This case report underscores the detrimental impact of large fragment deletion mutations in the TK2 gene and elucidates their role in the pathogenesis of MDS. It broadens the spectrum of known TK2 mutations and enhances our understanding of the structural and functional consequences of these mutations.
Authors
- Y.H. Shi
- Yan Lin (ORCID: https://orcid.org/0000-0003-0282-6749)
- Chuanzhu Yan (ORCID: https://orcid.org/0000-0002-2191-5184)
- Duoling Li (ORCID: https://orcid.org/0000-0001-9334-6702)
- Hongwei Sun
Institutions
- Qilu Hospital of Shandong University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-03-17
- DOI
- https://doi.org/10.1186/s13023-025-03639-x
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- China Postdoctoral Science Foundation
- Natural Science Foundation of Shandong Province