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Article Abstract

Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL), caused by aspartyl-tRNA synthetase () 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 manifestations, imaging features, treatment methods, and gene mutations responsible for HBSL based on relevant studies and cases.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9878823PMC
http://dx.doi.org/10.3389/fgene.2022.1009230DOI Listing

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