Case Report: DARS Mutations Responsible for Hypomyelination With Brain Stem and Spinal Cord Involvement and Leg Spasticity

Objective: Hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) is a rare form of leukodystrophy presenting with varying clinical and imaging features. We report a case of HBSL to investigate the clinical and radiological characteristics of HBSL resulting from cytopl...

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Detalles Bibliográficos
Autores principales: Liu, Meijun, Xiao, Wen, Yang, Fang, Wang, Xueqing, Chen, Chao, Jin, Shuoguo, Ran, Ningjing, Chen, Weiyin, Yang, Dongdong
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/PMC9094363/
https://www.ncbi.nlm.nih.gov/pubmed/35571067
http://dx.doi.org/10.3389/fgene.2022.845967

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9094363/
https://www.ncbi.nlm.nih.gov/pubmed/35571067
http://dx.doi.org/10.3389/fgene.2022.845967

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