Article
Han family with essential tremor caused by the P421L variant of the TENM4 gene in China.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2023
Chi Wu, Wu Min, Wang Han-Lu, Wu Qiu-Yan, Zhang Yan-Ping, Hu Ya-Nan, Zhu Yao-Bin, Lin Xin-Fu, Chen Ting, Luo Jie-Wei, Ruan Xing-Lin, Li Yun-Fei
Abstract excerpt
BACKGROUND: Essential tremor (ET) is an autosomal dominant inheritance disorder. Mutations in fusion sarcoma (FUS), mitochondrial serine peptidase 2 (HTRA2), teneurin transmembrane protein 4 (TENM4), sortilin1 (SORT1), SCN11A, and notch2N-terminal-like (NOTCH2NLC) genes are associated with familial ET. METHODS: A proband with ET was tested using whole-exome sequencing and repeat-primed polymerase chain reaction....
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