Article
Homozygote of spinocerebellar Ataxia type 3 correlating with severe phenotype based on analyses of clinical features.
Journal of the neurological sciences - 15 Jul 2018
Shang Xian-Jin, Xu Hao-Ling, Yang Jin-Shan, Chen Ping-Ping, Lin Min-Ting, Qian Mei-Zhen, Lin Hui-Xia, Chen Xiao-Ping, Chen Yu-Chao, Jiang Bin, Chen Yi-Jun, Chen Wan-Jin, Wang Ning, Zhou Zhi-Ming, Gan Shi-Rui
Abstract excerpt
BACKGROUND: Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of SCAs worldwide. SCA3 homozygote is defined as expanded CAG repeats in both alleles that might exhibit severe phenotype due to gene dosage effect. However, a study on the systematic comparison of clinical phenotypes between homozygotes and heterozygotes to indicate these verity of phenotypes of homozygotes is still lacking. METHODS: A...
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