Article
A novel FBXO7-R345P mutation in a Chinese family with autosomal recessive parkinsonian-pyramidal syndrome.
Parkinsonism & related disorders - 1 Jul 2021
Wang Zhanjun, Song Yang, Zhu Wenjia, Wang Xianling, Li Xuying, Xu Fanxi, Si Lianghao, Yao Tingyan, Zhu Junge, Lai Hong, Li Wei, Lin Feng, Wang Chaodong
Abstract excerpt
BACKGROUND: Mutations in the F-box protein 7 (FBXO7) gene is one of the genetic causes of early-onset Parkinson's disease, which usually presents as autosomal recessive early-onset parkinsonian-pyramidal syndrome (PPS). Herein, we report a Chinese PPS family with a novel FBXO7 homozygous mutation. METHODS: Clinical data of the proband and his affected sister manifesting as early-onset parkinsonism combined with...
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