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Article

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

Human mutation - 1 Nov 2014

Griffin Laurie B, Sakaguchi Reiko, McGuigan David, Gonzalez Michael A, Searby Charles, Züchner Stephan, Hou Ya-Ming, Antonellis Anthony

Abstract excerpt

Charcot-Marie-Tooth disease type 2D (CMT2D) is an autosomal-dominant axonal peripheral neuropathy characterized by impaired motor and sensory function in the distal extremities. Mutations in the glycyl-tRNA synthetase (GARS) gene cause CMT2D. GARS is a member of the ubiquitously expressed aminoacyl-tRNA synthetase (ARS) family and is responsible for charging tRNA with glycine. To date, 13 GARS mutations have been...

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PMID: 25168514
DOI: 10.1002/humu.22681
PMCID: PMC4213347

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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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Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.PMID 25168514Read ↗

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