Article
A novel compound heterozygous mutation in the COA7 gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3.
Clinical neuropathology - 1 Jan 2000
Tang Yuwei, Yu Meng, Zhang Wei, Lv He, Deng Jianwen, Liu Jing, Shi Xin, Liang Wei, Jia Zhirong, Yuan Yun, Wang Zhaoxia, Meng Lingchao
Abstract excerpt
OBJECTIVE: Spinocerebellar ataxia with axonal neuropathy type 3 (SCAN3) is a very rare autosomal recessive hereditary disease. Mutations in the COA7 gene, which encodes cytochrome c oxidase assembly factor 7, have been recently reported as the causative gene of SCAN3. So far, only five SCAN3 patients with COA7 mutations have been documented. Herein, we report the clinical, electrophysiological, histological, and...
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