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Article

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

Brain : a journal of neurology - 1 Nov 2004

Parman Yesim, Battaloglu Esra, Baris Ibrahim, Bilir Birdal, Poyraz Mürüvvet, Bissar-Tadmouri Nisrine, Williams Anna, Ammar Nadia, Nelis Eva, Timmerman Vincent, De Jonghe Peter, Najafov Ayaz, Necefov Ayaz, Deymeer Feza, Serdaroglu Piraye, Brophy Peter J, Said G

Abstract excerpt

Autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT4), Dejerine-Sottas disease and congenital hypomyelinating neuropathy are variants of hereditary demyelinating neuropathy of infancy, a genetically heterogeneous group of disorders. To explore the spectrum of early-onset demyelinating neuropathies further, we studied the clinicopathological and genetic aspects of 20 patients born to unaffected...

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Source

Identifiers

PMID: 15469949
DOI: 10.1093/brain/awh275

Genes

MTMR2
EGR2
GDAP1
PRX

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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