Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report
In conclusion, we report for the first time that the two heterozygous mutations PNPLA2 c.919delG and c.757 + 1G > T together induced NLSDM, which was confirmed by muscle biopsy.
Authors
- Jie Zhu (ORCID: https://orcid.org/0000-0003-4910-2828)
- Yulai Kang (ORCID: https://orcid.org/0000-0003-4117-3242)
- Chunhua Tang (ORCID: https://orcid.org/0009-0002-0357-8919)
- Lu Guo (ORCID: https://orcid.org/0000-0001-7361-3391)
- Tong Yang (ORCID: https://orcid.org/0009-0009-5124-923X)
- Lili Zhang (ORCID: https://orcid.org/0009-0005-7341-1438)
Institutions
- Army Medical University (CN)
- Daping Hospital (CN)
- Air Force General Hospital PLA (CN)
- Air Force Medical University (CN)
Publication Details
- Journal
- BMC Musculoskeletal Disorders
- Published
- 2024-08-23
- DOI
- https://doi.org/10.1186/s12891-024-07772-9
- Primary Topic
- Lipid metabolism and biosynthesis
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Centre Scientifique et Technique du Bâtiment