Clinicopathological-genetic features of neutral lipid storage disease with myopathy from a Chinese neuromuscular center
This study prompted us to summarize abnormal clinicopathological features and explore the relationship between gene mutations and disease phenotypes in NLSDM.
Authors
- Guanzhong Shi (ORCID: https://orcid.org/0000-0003-0942-8778)
- Huan Yang (ORCID: https://orcid.org/0000-0003-1523-0338)
- Kun Huang (ORCID: https://orcid.org/0000-0003-1470-5071)
- Qiuxiang Li (ORCID: https://orcid.org/0000-0002-9584-4673)
- Yining Luan
Institutions
- Central South University (CN)
- Xiangya Hospital Central South University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-07-01
- DOI
- https://doi.org/10.1186/s13023-025-03861-7
- Citations
- 1
- Primary Topic
- Lipid metabolism and biosynthesis
- Type
- article
- Field-Weighted Citation Impact
- 1.11
Funders
- Innovative Research Group Project of the National Natural Science Foundation of China
- National Natural Science Foundation of China