Article
Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation: A case report.
Medicine - 1 Dec 2017
Li Tao, Zhang Zhao-Jing, Ma Xin, Lv Xue, Xiao Hai, Guo Qian-Nan, Liu Hong-Yan, Wang Hong-Dan, Wu Dong, Lou Gui-Yu, Wang Xin, Zhang Chao-Yang, Liao Shi-Xiu
Abstract excerpt
BACKGROUND: Patients with Duchenne muscular dystrophy (DMD) usually have severe and fatal symptoms. At present, there is no effective treatment for DMD, thus it is very important to avoid the birth of children with DMD by effective prenatal diagnosis. We identified a de novo DMD gene mutation in a Chinese family, and make a prenatal diagnosis. METHODS: First, multiplex ligation-dependent probe amplification...
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