Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study
The clinical and histopathological findings underscore the distinctive characteristics and heterogeneity of the disease. Significantly, this study broadens the mutational spectrum of GNE myopathy by identifying five novel variants.
Authors
- Hongran Wu
- Juyi Liu
- Ning Wang (ORCID: https://orcid.org/0000-0002-9655-9735)
- Shaojuan Ma
- Xueqin Song (ORCID: https://orcid.org/0000-0003-0463-8450)
- Yuhao Wu (ORCID: https://orcid.org/0000-0003-2475-8820)
- Guang Ji
- Ziyan Hao
- Jinliang Deng
Institutions
- Hebei Medical University (CN)
- Second Hospital of Hebei Medical University (CN)
- Hebei Meteorological Bureau (CN)
- Hebei University of Chinese Medicine (CN)
- Hebei Science and Technology Department (CN)
Publication Details
- Journal
- BMC Musculoskeletal Disorders
- Published
- 2025-11-14
- DOI
- https://doi.org/10.1186/s12891-025-09282-8
- Primary Topic
- Inflammatory Myopathies and Dermatomyositis
- Type
- article
- Field-Weighted Citation Impact
- 0.00