Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22
Spinocerebellar ataxia 19/22 (SCA19/22) is a rare neurodegenerative disorder caused by mutations of the KCND3 gene, which encodes the Kv4. 3 protein. Currently, only 22 KCND3 single-nucleotide mutation sites of SCA19/22 have been reported worldwide, and detailed pathogenesis remains unclear. In this...
Main Authors: | Mengjie Li, Fen Liu, Xiaoyan Hao, Yu Fan, Jiadi Li, Zhengwei Hu, Jingjing Shi, Liyuan Fan, Shuo Zhang, Dongrui Ma, Mengnan Guo, Yuming Xu, Changhe Shi |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2022-06-01
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Series: | Frontiers in Molecular Neuroscience |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fnmol.2022.919199/full |
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