Late onset axonal Charcot‐Marie‐Tooth phenotype caused by a novel myelin protein zero mutation

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...

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Bibliographische Detailangaben
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2006
Schlagworte:
Short Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2077493/
https://ncbi.nlm.nih.gov/pubmed/16543539
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2005.073437
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