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Article

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.

Neurogenetics - 1 Nov 2007

Szigeti Kinga, Wiszniewski Wojciech, Saifi Gulam Mustafa, Sherman Diane L, Sule Norbert, Adesina Adekunle M, Mancias Pedro, Papasozomenos Sozos Ch, Miller Geoffrey, Keppen Laura, Daentl Donna, Brophy Peter J, Lupski James R

Abstract excerpt

Mutations in the EGR2 gene cause a spectrum of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies. We ascertained ten consecutive patients with various EGR2 mutations, report a novel de novo mutation, and provide longitudinal clinical data to characterize the natural history of the peripheral neuropathy. We confirmed that respiratory compromise and cranial nerve dysfunction are commonly...

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Source

Identifiers

PMID: 17717711
DOI: 10.1007/s10048-007-0094-0

Genes

EGR2

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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