Maohua Li Jiandi Huang Min Liu Chunmei Duan Hong Guo Xiaoyan Chen Yue Wang
10.3389/fneur.2023.1063090
Front Neurol
2023 Jan 27;14:1063090.
bethlem myopathy col6-rd col6a3 muscle mri muscular dystrophy
CC BY
https://pubmed.ncbi.nlm.nih.gov/36779064/
Case Reports
PMC9911450
36779064
A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report
2023