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Article

EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.

Journal of the peripheral nervous system : JPNS - 1 Sept 2023

Echaniz-Laguna Andoni, Cauquil Cécile, Chanson Jean-Baptiste, Tard Céline, Guyant-Marechal Lucie, Kuntzer Thierry, Ion Ioana Maria, Lia Anne-Sophie, Bouligand Jérôme, Poinsignon Vianney

Abstract excerpt

BACKGROUND: Mutations in the Early-Growth Response 2 (EGR2) gene cause various hereditary neuropathies, including demyelinating Charcot-Marie-Tooth (CMT) disease type 1D (CMT1D), congenital hypomyelinating neuropathy type 1 (CHN1), Déjerine-Sottas syndrome (DSS), and axonal CMT (CMT2). METHODS: In this study, we identified 14 patients with heterozygous EGR2 mutations diagnosed between 2000 and 2022. RESULTS: Mean...

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PMID: 37306961
DOI: 10.1111/jns.12572

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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