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

@article{EchanizLaguna2007NDRG1linkedCD,
  title={NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement.},
  author={Andoni Echaniz-Laguna and Bertrand Degos and C{\'e}line Bonnet and Philippe Latour and Tarik Hamadouche and Nicolas L{\'e}vy and Bruno P. Leheup},
  journal={Neuromuscular disorders : NMD},
  year={2007},
  volume={17 2},
  pages={163-8}
}
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 matter abnormalities on brain magnetic resonance imaging studies, and the R148X mutation… CONTINUE READING

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