title: CMT4D (NDRG1 mutation): genotype-phenotype correlations.
abstract: Charcot-Marie-Tooth (CMT) disease is a heterogeneous condition with a large number of clinical, electrophysiological and pathological phenotypes. More than 40 genes are involved. We report a child of gypsy origin with an autosomal recessive demyelinating phenotype. Clinical data, familial history, and electrophysiological studies were in favor of a CMT4 sub-type. The characteristic N-Myc downstream-regulated gene 1 (NDRG1) mutation responsible for this CMT4D phenotype was confirmed: p.R148X. The exact molecular function of the NDRG1 protein has yet to be elucidated.
authors.affiliation: Service et Laboratoire de Neurologie, Centre de Référence Neuropathies Périphériques Rares, CHU Limoges, Limoges, France.
authors.forename: Emilie
authors.initials: E
authors.lastname: Ricard
authors.forename: Stéphane
authors.initials: S
authors.lastname: Mathis
authors.forename: Corinne
authors.initials: C
authors.lastname: Magdelaine
authors.forename: Marie-Bernadette
authors.initials: MB
authors.lastname: Delisle
authors.forename: Laurent
authors.initials: L
authors.lastname: Magy
authors.forename: Benoît
authors.initials: B
authors.lastname: Funalot
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Vallat
mesh_terms: D018797:Cell Cycle Proteins / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D002648:Child; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D046529:Microscopy, Electron, Transmission; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012035:Refsum Disease / Q000235:genetics* / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure; D000099259:N-myc Downstream-Regulated Gene 1 Protein
chemical_list: D018797:Cell Cycle Proteins; D047908:Intracellular Signaling Peptides and Proteins; D000099259:N-myc Downstream-Regulated Gene 1 Protein
keywords: CMT4D; Charcot-Marie-Tooth disease; HSMN-Lom; NDRG1; electron microscopy