De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease.

Andrzej Kochański; Dagmara Kabzińska

doi:10.18388/abp.2004_3537

De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease.

Andrzej Kochański Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland. andko@cmdik.pan.pl;
Dagmara Kabzińska

DOI: https://doi.org/10.18388/abp.2004_3537

Abstract

To date, 12 cases of heterozygous Ser72Leu mutations in the peripheral myelin protein 22 have been reported in patients suffering from severe demyelinating form of Charcot-Marie-Tooth disease (CMT1) and congenital hypomyelinating neuropathy (CHN) [MIM# 605253]. In the present study we report two cases of de novo S72L mutations in the PMP22 gene detected in patients of Polish origin suffering from CMT1 disease.

Published

2004-12-31

Issue

Vol. 51 No. 4 (2004)

Section

Articles

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