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CMT4D (NDRG1 mutation): genotype–phenotype correlations |
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| Authors: | Emilie Ricard Stéphane Mathis Corinne Magdelaine Marie‐Bernadette Delisle Laurent Magy Benoît Funalot Jean‐Michel Vallat |
| Institution: | 1. Service et Laboratoire de Neurologie, Centre de Référence Neuropathies Périphériques Rares, CHU Limoges, , Limoges, France;2. Service de Neurologie, CHU Poitiers, Université de Poitiers, , Poitiers, France;3. Service de Génétique Moléculaire, CHU Limoges, , Limoges, France;4. Service d'Anatomie Pathologique et Histologie‐Cytologie, CMEAB, Faculté de Médecine Rangueil, CHU Rangueil, , Toulouse, France |
| 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. |
| Keywords: | Charcot‐Marie‐Tooth disease CMT4D electron microscopy HSMN‐Lom NDRG1 |