Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights
This study enriches the variant spectrum in Chinese patients, highlights the importance of early diagnosis prior to the onset of cachexia and irreversible tissue damage, and enhances the understanding of genetic heterogeneity.
Authors
- Lihong Yang (ORCID: https://orcid.org/0000-0002-9210-1022)
- Xuebi Xu
- Fei Xu (ORCID: https://orcid.org/0000-0003-0765-6806)
- Xiaoli Chen (ORCID: https://orcid.org/0000-0002-4878-1905)
- Junhui Xia (ORCID: https://orcid.org/0000-0003-0187-1628)
- Mingshan Wang
Institutions
- Wenzhou Medical University (CN)
- First Affiliated Hospital of Wenzhou Medical University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-08-18
- DOI
- https://doi.org/10.1186/s13023-025-03962-3
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00