TY -的T1 - < em > SGCE < / em > Myoclonus-Dystonia JF 首页-神经学乔-神经病学SP - 289 LP - 289 - 10.1212 / WNL。0000000000013209六世- 98 - 7盟Sangeetha Yoganathan AU - Madhan Kumar盟Suvasini Sharma AU - Smruti Patel盟Sumita Danda盟——玛雅托马斯Y1 - 2022/02/15 UR - //www.ez-admanager.com/content/98/7/289首页.abstract N2 -一个5岁的女孩出现肌阵挛和频繁的爱上了2.5年。肌阵挛涉及武器和轴向肌肉和肌张力障碍的左脚(视频)被观察到。她的祖母和父亲相似的表型的不同发病年龄和严重性。的可能性SGCE myoclonus-dystonia ADCY5-related运动障碍,dentatorubral-pallidoluysian萎缩,肌肉阵挛性肌张力障碍26被认为是。A pathogenic heterozygous nonsense variant (c.304C>T; p.Arg102Ter) in exon 3 of the epsilon-sarcoglycan (SGCE) gene was identified. ER -