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Article

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

Neurology - 10 Jun 1999

Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner L E, Lupski J R, Martin J J, Van Broeckhoven C

Abstract excerpt

BACKGROUND: Mutations in the early growth response 2 (EGR2) gene have recently been found in patients with congenital hypomyelinating neuropathy and Charcot-Marie-Tooth type 1 (CMT1) disease. OBJECTIVE: To determine the frequency of EGR2 mutations in patients with a diagnosis of CMT1, Dejerine-Sottas syndrome (DSS), or unspecified peripheral neuropathies. METHODS: Fifty patients and 70 normal control subjects...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10371530
DOI: 10.1212/wnl.52.9.1827

Genes

EGR2
MPZ
PMP22

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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