The proband is a five-year-old boy diagnosed with Duchenne muscular dystrophy (DMD) by clinical manifestations and laboratory examination, but clinical phenotype of his parents is normal. In the study, his mother had a second pregnancy, and they went to obstetrics for genetic counseling to make informed reproductive choices.
基金：
National Key Research and Development Program of China [2018YFC1002904]
第一作者单位：[1]Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Obstet & Gynecol, 1095 Jiefang Ave, Wuhan 430030, Peoples R China
通讯作者：
推荐引用方式(GB/T 7714)：
Liu Wanlu,Shi Xinwei,Li Yuqi,et al.The identification of a novel splicing mutation in the DMD gene of a Chinese family[J].CLINICAL CASE REPORTS.2021,9(12):doi:10.1002/ccr3.5166.
APA：
Liu, Wanlu,Shi, Xinwei,Li, Yuqi,Qiao, Fuyuan&Wu, Yuanyuan.(2021).The identification of a novel splicing mutation in the DMD gene of a Chinese family.CLINICAL CASE REPORTS,9,(12)
MLA：
Liu, Wanlu,et al."The identification of a novel splicing mutation in the DMD gene of a Chinese family".CLINICAL CASE REPORTS 9..12(2021)
