Preliminary study on pathogenic mechanism of first Chinese family with PNKD

Preliminary study on pathogenic mechanism of first Chinese family with PNKD

The first Chinese family with paroxysmal non-kinesigenic dystonia (PNKD) was confirmed to harbour a PNKD mutation. However, the pathogenic mechanism of the PNKD-causing gene mutation was unclear.

Bibliographic Details
Main Authors: Chen Feng, Zhang Shaohui, Liu Tinghong, Yuan Liu, Wang Yangshuo, Zhang Guojun, Liang Shuli
Format: Article
Language:English
Published: De Gruyter 2022-06-01
Series:Translational Neuroscience
Subjects:
gene mutation
gene function
paroxysmal non-kinesigenic dystonia
isobaric tags for relative and absolute quantitation
Online Access:https://doi.org/10.1515/tnsci-2022-0222

Internet

https://doi.org/10.1515/tnsci-2022-0222

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