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Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia

Background: Fatal familial insomnia (FFI) is a rare autosomal-dominant inherited prion disease characterized clinically by severe sleep disorder, motor signs, dysautonomia and abnormal behaviour. FFI is caused by a missense mutation at codon 178 of the prion protein gene (PRNP). Our study is aimed t...

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Principais autores: Runcheng He, Yacen Hu, Lingyan Yao, Yun Tian, Yafang Zhou, Fang Yi, Lin Zhou, Hongwei Xu, Qiying Sun
פורמט: Artigo
שפה:Inglês
יצא לאור: Taylor & Francis Group 2019-01-01
סדרה:Prion
נושאים:
Fatal family insomnia
clinical features
genetic characteristics
pedigree
PRNP
gene mutation
גישה מקוונת:https://www.tandfonline.com/doi/10.1080/19336896.2019.1617027
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