RARS1 ‐related hypomyelinating leukodystrophy: Expanding the spectrum

Volume: 7, Issue: 1, Pages: 83 - 93
Published: Dec 8, 2019
Abstract
Objective Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with RARS1-related disease, and to identify possible genotype-phenotype relationships. Methods We performed a multinational cross-sectional survey among 20 patients with biallelic RARS1 variants identified by...
Paper Details
Title
RARS1 ‐related hypomyelinating leukodystrophy: Expanding the spectrum
Published Date
Dec 8, 2019
Volume
7
Issue
1
Pages
83 - 93
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