孤立性维生素 E 缺乏的共济失调
基因病名称(英)
Ataxia with isolated vitamin E deficiency
别名(英)
Ataxia Friedreich-like with selective vitamin E deficiency,Familial isolated vitamin E deficiency
别名
弗里德赖希样选择性维生素E缺乏症，家族性孤立性维生素E缺乏症
统计
reviewed:1; annotated:0
交叉引用
277460,C1848533,D014811
描述(英)
An autosomal recessive disease characterized by undetectable or markedly reduced plasma levels of vitamin E, spinocerebellar degeneration, ataxia, areflexia and proprioception loss.
描述
一种常染色体隐性遗传病，其特征是无法检测到或显着降低的维生素 E 血浆水平、脊髓小脑变性、共济失调、反射消失和本体感觉丧失。