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Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.

Genes & genomics - 1 Jun 2020

Lee Ah Jin, Nam Da Eun, Choi Yu Jin, Nam Soo Hyun, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

BACKGROUND: Alanyl-tRNA synthetase 1 (AARS1) gene encodes a ubiquitously expressed class II enzyme that catalyzes the attachment of alanine to the cognate tRNA. AARS1 mutations are frequently responsible for autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N). OBJECTIVE: To identify pathogenic mutation in the Korean patients with CMT and distal hereditary motor neuronopathy (dHMN). METHODS: We screened...

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PMID: 32314272
DOI: 10.1007/s13258-020-00933-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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