Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation. Issue 4 (16th March 2006)

• Record Type: Journal Article
• Authors: Bienfait, H M E; Faber, C G; Baas, F; Gabreëls-Festen, A A W M; Koelman, J H T M; Hoogendijk, J E; Verschuuren, J J; Wokke, J H J; de Visser, M
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 77:Issue 4(2006)
• Page Start: 534
• Page End: 537
• Publication Date: 2006-03-16
• Subjects: CMT, Charcot-Marie-Tooth disease -- DSS, Dejerine-Sottas syndrome -- MNCV, motor nerve conduction velocity -- SSCP, single strand confirmation polymorphism analysis; Charcot-Marie-Tooth disease -- myelin protein zero gene -- MPZ; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.2005.073437
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : A late onset axonal Charcot-Marie-Tooth phenotype is described, resulting from a novel mutation in the myelin protein zero ( MPZ ) gene. Comparative computer modelling of the three dimensional structure of the MPZ protein predicts that this mutation does not cause a significant structural change. The primary axonal disease process in these patients points to a function of MPZ in maintenance of the myelinated axons, apart from securing stability of the myelin layer.