Pathogenic Variant in the 5’-Untranslated Region of GCH1 and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia
By: Yanting Li
, Mingqiang Li, Lanqing Liu, Qiying Sun and Guang Yang
, Mingqiang Li, Lanqing Liu, Qiying Sun and Guang Yang Authors
Yanting Li
Department of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008
Mingqiang Li
Department of Neurology, The First Affiliated Hospital of University of South China, Hengyang, Hunan, 421001
Lanqing Liu
Department of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008
Qiying Sun
Department of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, 410008; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008
Guang Yang
Department of General Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410008
DOI: https://doi.org/10.5334/tohm.974 | Journal eISSN: 2160-8288
Language: English
Submitted on: Nov 13, 2024
Accepted on: Dec 25, 2024
Published on: Jan 7, 2025
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
© 2025 Yanting Li, Mingqiang Li, Lanqing Liu, Qiying Sun, Guang Yang, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.