CMT4D (NDRG1 mutation): genotype–phenotype correlations. Issue 3 (12th September 2013)

• Record Type: Journal Article
• Authors: Ricard, Emilie; Mathis, Stéphane; Magdelaine, Corinne; Delisle, Marie‐Bernadette; Magy, Laurent; Funalot, Benoît; Vallat, Jean‐Michel
• Is Part Of: Journal of the peripheral nervous system. Volume 18:Issue 3(2013)
• Page Start: 261
• Page End: 265
• Publication Date: 2013-09-12
• Subjects: Nervous system -- Periodicals; Nerves, Peripheral -- Diseases -- Periodicals; Peripheral Nervous System Diseases -- Periodicals; Peripheral Nervous System -- Periodicals; 612.81
• DOI: 10.1111/jns5.12039
• Languages: English
• ISSNs: 1085-9489

Abstract

<abstract abstract-type="main" id="jns512039-abs-0001"> <title>Abstract</title> <p id="jns512039-para-0001">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 (<italic>NDRG1</italic>) mutation responsible for this CMT4D phenotype was confirmed: p.R148X. The exact molecular function of the NDRG1 protein has yet to be elucidated.</p> </abstract>