Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations

Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL), caused by aspartyl-tRNA synthetase (DARS1) gene mutations, is extremely rare, with only a few cases reported worldwide; thus, reports on HBSL treatment are few. In this review, we summarized the clinical manifestat...

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Detalles Bibliográficos
Autores principales: Zhu, Jingyi, Guo, Xiaomin, Ran, Ningjing, Liang, Jingtao, Liu, Fuyou, Liu, Junyan, Wang, Rongyu, Jiang, Lianyan, Yang, Dongdong, Liu, Meijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9878823/
https://www.ncbi.nlm.nih.gov/pubmed/36712860
http://dx.doi.org/10.3389/fgene.2022.1009230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9878823/
https://www.ncbi.nlm.nih.gov/pubmed/36712860
http://dx.doi.org/10.3389/fgene.2022.1009230

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