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Article

Four pedigrees with aminoacyl-tRNA synthetase abnormalities.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2022

Okamoto Nobuhiko, Miya Fuyuki, Tsunoda Tatsuhiko, Kanemura Yonehiro, Saitoh Shinji, Kato Mitsuhiro, Yanagi Kumiko, Kaname Tadashi, Kosaki Kenjiro

Abstract excerpt

Aminoacyl tRNA synthetases (ARSs) are highly conserved enzymes that link amino acids to their cognate tRNAs. Thirty-seven ARSs are known and their deficiencies cause various genetic disorders. Variants in some ARSs are associated with the autosomal dominant inherited form of axonal neuropathy, including Charcot-Marie-Tooth (CMT) disease. Variants of genes encoding ARSs often cause disorders in an autosomal...

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PMID: 34585293
DOI: 10.1007/s10072-021-05626-z

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