Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes.
Initially the Myelin Protein Zero gene was shown to be mutated in the demyelinating form of Charcot-Marie-Tooth disease (CMT1). The vast majority of the mutations in the Myelin Protein Zero gene have been detected in the Charcot-Marie-Tooth (1B) disease, however, some of them were found in patients suffering from congenital hypomyelinating neuropathy and axonal type Charcot-Marie-Tooth disease. In this study, a Charcot-Marie-Tooth disease phenotype diversity associated with different mutations in the MPZ gene, is described.
Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland. andko@cmdik.pan.pl
A
A
Kochański
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D006801:Humans; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics*; D010641:Phenotype
D018993:Myelin P0 Protein