一个遗传学珍珠,用于辅导患有埃普西隆 - 萨尔科格利坎肌 - 脊髓炎的患者
Alissa S Higinbotham1,2, Suzanne D DeBrosse1,2,3, Camilla W Kilbane1,2
1Neurological Institute, University Hospitals Cleveland Medical Center, US.
Tremor and other hyperkinetic movements (New York, N.Y.)
|August 28, 2023
概括
埃普西隆-萨尔科格利康肌细胞缩症 (Epsilon-sarcoglycan myoclonus-dystonia,SGCE-MD) 是一种自体主导性疾病,由于印记和透率降低,经常错过. 遗传咨询必须考虑到传播风险的性别差异.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
背景情况:
- 埃普西隆-萨尔科格利康肌细胞缩症 (Epsilon-sarcoglycan myoclonus-dystonia,SGCE-MD) 是一种自体主导性疾病.
- 在大约95%的病例中,母体印记导致透率降低.
- 缺乏家族病史可能会推迟诊断和治疗.
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