期刊
JOURNAL OF MOLECULAR NEUROSCIENCE
卷 52, 期 4, 页码 493-496出版社
SPRINGERNATURE
DOI: 10.1007/s12031-013-0187-1
关键词
Spinocerebellar ataxia; SCA28; AFG3L2; Mitochondrial m-AAA protease
SCA28 is caused by mutations in the AFG3L2 gene. This gene encodes a subunit of the mitochondrial metalloprotease AFG3L2 (AFG3-like protein 2). Clinical features of SCA28 include slow to moderate progressive ataxia, dysarthria, and additional symptoms such as nystagmus, slow saccades, and increased deep tendon reflexes. Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia and a positive family history. The nucleotide change results in the substitution of an evolutionarily highly conserved tyrosine by histidine (p.Y689H) in the M41 peptidase domain of AFG3L2.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据