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.
- 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
Statistics from Altmetric.com
Competing interests: none declared
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.