Identification of Compound Heterozygous Variants in <scp>OBSCN</scp> Gene Associated With Rhabdomyolysis: A Case Report
We report the first case of rhabdomyolysis in China caused by OBSCN gene variants. This finding further extends the spectrum of the OBSCN gene variants. It also provides an important basis for genetic counseling and helps in the early diagnosis and management of similar cases.
Authors
- Ruiyan Wang (ORCID: https://orcid.org/0000-0001-5560-6841)
- Yong Chen (ORCID: https://orcid.org/0000-0001-7534-1780)
- Jihua Xie
- Hui Chen (ORCID: https://orcid.org/0000-0001-6883-3752)
- Jianmin Zhong (ORCID: https://orcid.org/0000-0003-3203-6094)
- Xiaolan Sun
Institutions
- Jiangxi Provincial Children's Hospital (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-04-01
- DOI
- https://doi.org/10.1002/mgg3.70094
- Primary Topic
- Cardiovascular Effects of Exercise
- Type
- article
- Field-Weighted Citation Impact
- 0.00