Segawa syndrome caused by TH gene mutation and its mechanism

Dopa-responsive dystonia (DRD), also known as Segawa syndrome, is a rare neurotransmitter disease. The decrease in dopamine caused by tyrosine hydroxylase (TH) gene mutation may lead to dystonia, tremor and severe encephalopathy in children. Although the disease caused by recessive genetic mutation...

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Detalles Bibliográficos
Autores principales: Wang, Yilin, Wang, Chunmei, Liu, Meiyan, Xu, Wuhen, Wang, Simei, Yuan, Fang, Luo, Xiaona, Xu, Quanmei, Yin, Rongrong, Wang, Anqi, Guo, Miao, Lin, Longlong, Wang, Chao, Cheng, Hongyi, Liu, Zhiping, Zhang, Yuanfeng, Zeng, Fanyi, Yan, Jingbin, Chen, Yucai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9772685/
https://www.ncbi.nlm.nih.gov/pubmed/36568392
http://dx.doi.org/10.3389/fgene.2022.1004307

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