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Article

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).

Scientific reports - 18 Dec 2019

Grosz Bianca R, Golovchenko Natasha B, Ellis Melina, Kumar Kishore, Nicholson Garth A, Antonellis Anthony, Kennerson Marina L

Abstract excerpt

EGR2 (early growth response 2) is a crucial transcription factor for the myelination of the peripheral nervous system. Mutations in EGR2 are reported to cause a heterogenous spectrum of peripheral neuropathy with wide variation in both severity and age of onset, including demyelinating and axonal forms of Charcot-Marie Tooth (CMT) neuropathy, Dejerine-Sottas neuropathy (DSN/CMT3), and congenital hypomyelinating...

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Identifiers

PMID: 31852952
DOI: 10.1038/s41598-019-55875-4
PMCID: PMC6920433

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