![]() ![]() This deletion was inherited from his unaffected father and was carried by his younger sister with EOPD. Whole exome sequencing (WES) identified a novel monoallelic frameshift deletion mutation ( dysferlin: c.4404delC/p.I1469Sfs ∗17) in the Dysferlin gene in the index patient who suffered from MMD. Methods and Results: In this study, we report an family with two siblings exhibiting two different NMD, Miyoshi muscular dystrophy (MMD) and early onset primary dystonia (EOPD). Due to advances in high-throughput sequencing technologies, the diagnosis of hereditary NMDs has dramatically improved in recent years. 4Department of Respiratory Medicine, The Third Hospital of Hebei Medical University, Shijiazhuang, Chinaīackground: Neuromuscular disorders (NMD), many of which are hereditary, affect muscular function. ![]() 3Department of Neurology, The Third Hospital of Hebei Medical University, Shijiazhuang, China.2Clinic Center of Human Gene Research, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.1Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.Feng Zhu 1,2†, Fengxiao Zhang 1,2†, Lizhi Hu 1,2, Haowen Liu 3 and Yahua Li 4* ![]()
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