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

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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Bibliographic Details
Main Authors: Meijun Liu, Wen Xiao, Fang Yang, Xueqing Wang, Chao Chen, Shuoguo Jin, Ningjing Ran, Weiyin Chen, Dongdong Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-04-01
Series:Frontiers in Genetics
Subjects:
posterior leukoencephalopathy sgndrome
HBSL
DARS1
mutation
case reprot
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.845967/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.845967/full

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