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Article

Insights into phenotypic variability caused by GARS1 pathogenic variants.

European journal of neurology - 1 Oct 2024

Jiménez-Jiménez Jesús, Navarrete Irene, Azorín Inmaculada, Martí Pilar, Vílchez Roger, Muelas Nuria, Cabello-Murgui Javier, Millet Elvira, Vázquez-Costa Juan Francisco, Vílchez Juan J, Sevilla Teresa, Sivera Rafael

Abstract excerpt

BACKGROUND AND PURPOSE: Pathogenic variants of the glycyl-tRNA synthetase 1 (GARS1) gene have been described as a cause of Charcot-Marie-Tooth disease type 2D, motor axonal neuropathy with upper limb predominance (distal hereditary motor neuropathy [dHMN] type V), and infantile spinal muscular atrophy. METHODS: This cross-sectional, retrospective, observational study was carried out on 12 patients harboring the...

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Source

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Identifiers

PMID: 39051710
DOI: 10.1111/ene.16416
PMCID: PMC11414817

Genes

GARS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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