Article
Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Apr 2024
Li Zhenyu, Li Yize, Chu Xujun, Du Kang, Tang Yuwei, Xie Zhiying, Yu Meng, Deng Jianwen, Lv He, Zhang Wei, Wang Zhaoxia, Meng Lingchao, Yuan Yun
Abstract excerpt
The mutations of the feline leukemia virus subgroup C receptor-related protein 1 (FLVCR1) cause ataxia with retinitis pigmentosa. Recent studies indicated a large variation in the phenotype of FLVCR1-associated diseases. In this report, we describe an adult male who manifested first with tremors in his third decade, followed by retinitis pigmentosa, sensory ataxia, and sensory neuropathy in his fourth decade....
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