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Article

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

European journal of neurology - 1 Dec 2015

Sevilla T, Sivera R, Martínez-Rubio D, Lupo V, Chumillas M J, Calpena E, Dopazo J, Vílchez J J, Palau F, Espinós C

Abstract excerpt

BACKGROUND AND PURPOSE: A three-generation family affected by axonal Charcot-Marie-Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype. METHODS: The clinical, nerve conduction studies and muscle magnetic resonance images of the patients were reviewed. A whole exome sequencing was performed and the changes were investigated by genetic studies,...

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Source

Identifiers

PMID: 26204789
DOI: 10.1111/ene.12782

Genes

EGR2

Variants

Provenance

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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