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Article

NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement.

Neuromuscular disorders : NMD - 1 Feb 2007

Echaniz-Laguna Andoni, Degos Bertrand, Bonnet Céline, Latour Philippe, Hamadouche Tarik, Lévy Nicolas, Leheup Bruno

Abstract excerpt

Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive demyelinating polyneuropathy, associated with deafness exclusively found in Gypsies and resulting from a homozygous R148X mutation in the N-myc downstream-regulated gene 1 (NDRG1). We report the detailed phenotypic study of a family without Gypsy ancestry, who presented with severe demyelinating polyneuropathy, deafness, subcortical white...

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Identifiers

PMID: 17142040
DOI: 10.1016/j.nmd.2006.10.002

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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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