Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
Comprehensive techniques such as WGS and Nanopore LRS warrants the identifying of <i>GNE</i> variants. Patients with the non-catalytic <i>GNE</i> variant, c.620A>T, had a milder disease progression and later wheelchair use.
Authors
- Haishan Jiang (ORCID: https://orcid.org/0000-0002-7388-8659)
- Xuen Yu (ORCID: https://orcid.org/0000-0003-1241-6962)
- Yanyan Yu (ORCID: https://orcid.org/0000-0002-5806-0896)
- Dongyue Yue
- Yongsheng Zheng (ORCID: https://orcid.org/0000-0002-7987-4282)
- Xueli Chang
- Bochen Zhu
- Xinghua Luan (ORCID: https://orcid.org/0000-0001-6683-5105)
- Kexin Jiao (ORCID: https://orcid.org/0000-0001-9526-5498)
- Huahua Zhong (ORCID: https://orcid.org/0000-0002-7852-3982)
- Wenhua Zhu (ORCID: https://orcid.org/0000-0001-8011-0274)
- Zhe Zhao (ORCID: https://orcid.org/0000-0002-1124-791X)
- Jia Tao Song (ORCID: https://orcid.org/0000-0002-0122-8360)
- Daojun Hong (ORCID: https://orcid.org/0000-0003-1380-3534)
- Mingshi Gao (ORCID: https://orcid.org/0000-0002-7524-892X)
- Jiahong Lu (ORCID: https://orcid.org/0000-0002-1147-125X)
- Huan Yang (ORCID: https://orcid.org/0000-0003-1523-0338)
- Jianying Xi (ORCID: https://orcid.org/0000-0003-1028-3801)
- Pengfei Lin (ORCID: https://orcid.org/0000-0002-0861-5785)
- Nachuan Cheng (ORCID: https://orcid.org/0000-0002-4045-9946)
- Qing Ke
- Sushan Luo (ORCID: https://orcid.org/0000-0002-9033-7568)
- Zhang‐Yu Zou
- Xuechun Chang (ORCID: https://orcid.org/0000-0002-4169-0146)
- Jie Lin (ORCID: https://orcid.org/0000-0003-2364-7993)
- Bitao Bu (ORCID: https://orcid.org/0000-0001-5369-7751)
- Yue Li (ORCID: https://orcid.org/0000-0002-4279-2080)
- Zhiqiang Wang (ORCID: https://orcid.org/0000-0003-2796-6318)
- Ningning Wang (ORCID: https://orcid.org/0009-0001-8086-8234)
- Tao Wang (ORCID: https://orcid.org/0000-0002-4355-149X)
- Jihong Dong
- Jialong Zhang (ORCID: https://orcid.org/0000-0002-1170-2337)
- Xiaojie Zhang (ORCID: https://orcid.org/0000-0001-8841-6219)
- Zhao Chongbo
- Xiaoqing Lv (ORCID: https://orcid.org/0000-0002-7199-0297)
- Meirong Liu (ORCID: https://orcid.org/0009-0003-1554-2304)
- Qiuxiang Li (ORCID: https://orcid.org/0000-0002-9584-4673)
- LingChun Liu
- Xingyu Xia
- Fangyuan Qian
- Liang Wang (ORCID: https://orcid.org/0000-0001-5224-8647)
Institutions
- Hebei Medical University (CN)
- Fujian Medical University (CN)
- Central South University (CN)
- Nanchang University (CN)
- Sun Yat-sen University (CN)
- Shanxi Medical University (CN)
- Fudan University (CN)
- Anhui University of Traditional Chinese Medicine (CN)
- Soochow University (CN)
- Third Hospital of Hebei Medical University (CN)
- First People's Hospital of Yunnan Province (CN)
- Zhongda Hospital Southeast University (CN)
- Chinese Institute for Brain Research (CN)
- First Affiliated Hospital of Fujian Medical University (CN)
- First Hospital of Shanxi Medical University (CN)
- National Clinical Research (US)
- Zhongshan Hospital (CN)
- The First Affiliated Hospital, Sun Yat-sen University (CN)
- Henan Provincial People's Hospital (CN)
- University of Minnesota Medical Center (US)
- Shanghai Sixth People's Hospital (CN)
- Shanghai Institute of Hematology (CN)
- First Affiliated Hospital of Soochow University (CN)
- Huashan Hospital (CN)
- Xiangya Hospital Central South University (CN)
- Tongji Hospital (CN)
- Qilu Hospital of Shandong University (CN)
- Shanghai Zhabei District Shibei Hospital (CN)
- Union Hospital (CN)
- First Affiliated Hospital of Nanchang University (CN)
- First Affiliated Hospital Zhejiang University (CN)
- Huazhong University of Science and Technology (CN)
- Southern Medical University (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-09-27
- DOI
- https://doi.org/10.1136/jmg-2024-110149
- Citations
- 7
- Primary Topic
- Chronic Lymphocytic Leukemia Research
- Type
- article
- Field-Weighted Citation Impact
- 3.07
Funders
- National Natural Science Foundation of China