与COL6A3突变相关的早发性孤立性肌张力障碍对深部脑刺激有反应。 - Suppr

Early-Onset Isolated Dystonia Associated with COL6A3 Mutation Responsive to Deep Brain Stimulation.

作者信息

Yan Jiuqi, He Xinyi, Qiu Chang, Lu Yue, Zhao Liang, Luo Bei, Dong Wenwen, Sun Jian, Chang Lei, Wei Xiang, Yan Jun, Zhang Wenbin

机构信息

Department of Functional Neurosurgery, The Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China.

Department of Geriatric Neurology, The Affiliated Brain Hospital of Nanjing Medical University, Nanjing, China.

出版信息

Mov Disord Clin Pract. 2024 Dec;11(12):1638-1641. doi: 10.1002/mdc3.14221. Epub 2024 Oct 3.

DOI:10.1002/mdc3.14221

PMID:39360855

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11648030/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4146/11648030/38568ed9610d/MDC3-11-1638-g001.jpg

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Early-Onset Isolated Dystonia Associated with COL6A3 Mutation Responsive to Deep Brain Stimulation.

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