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Article

Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.

Journal of the peripheral nervous system : JPNS - 1 Dec 2012

Lee Hye Jin, Park Jin, Nakhro Khriezanou, Park Jin Mo, Hur Yoon-Mi, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

Glycyl-tRNA synthetase (GARS), which encodes the enzyme responsible for charging tRNA(Gly) with glycine in both the cytoplasm and mitochondria, is implicated to Charcot-Marie-Tooth disease 2D (CMT2D) and distal hereditary motor neuropathy type V (dHMN-V). We performed whole exome sequencing (WES) to identify the genetic defects in the two dHMN families. WES revealed several decades of non-synonymous variants in...

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Identifiers

PMID: 23279345
DOI: 10.1111/j.1529-8027.2012.00442.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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