Homozygote of spinocerebellar Ataxia type 3 correlating with severe phenotype based on analyses of clinical features.

@article{Shang2018HomozygoteOS,
  title={Homozygote of spinocerebellar Ataxia type 3 correlating with severe phenotype based on analyses of clinical features.},
  author={Xianjin Shang and H Xu and Jin-shan Yang and Ping-ping Chen and Min-ting Lin and Mei-Zhen Qian and Hui-Xia Lin and Xiaoping Chen and Yu-Chao Chen and Bin Jiang and Yijun Chen and Wan-Jin Chen and Ning Wang and Zhiming Zhou and Shi-Rui Gan},
  journal={Journal of the neurological sciences},
  year={2018},
  volume={390},
  pages={111-114}
}
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… CONTINUE READING