Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant
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DOI: 10.1016/j.braindev.2020.12.008
Abstract: INTRODUCTION Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their correct tRNAs. Bi-allelic truncating variants in the AIMP1 gene have… read more here.
Keywords: hypomyelinating leukodystrophy; aimp1; peripheral nerves; aimp1 variant ... See more keywords