Mutations in Myelin Protein Zero result in a spectrum of CMT phenotypes

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Research Abstract from Acta Myol. 2004 May;23(1):6-9. (recently

indexed)

Mutations in the Myelin Protein Zero result in a spectrum of

Charcot-Marie-Tooth phenotypes.

Kochanski A.

Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences,

Warsaw, Poland.

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.