Article
A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of Becker muscular dystrophy in a Chinese family.
Molecular genetics and genomics : MGG - 1 May 2021
Chen Jianfan, Zheng Hui, Wang Zhongju, Wang Jian, He Fei, Zhang Cheng, Xiong Fu
Abstract excerpt
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are both caused by mutations in DMD gene effecting the expression of dystrophin. Generally female carriers are asymptomatic; however, it has been suggested that carriers may exhibit symptoms. We investigated a 6-year-old Chinese girl exhibiting a suspected BMD phenotype, including persistently elevated creatine kinase and creatine kinase...
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