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

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

Acta Biochim Pol. 2004;51(4):1047-50.

Authors

Andrzej Kochański¹, Dagmara Kabzińska

Affiliation

¹ Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland. andko@cmdik.pan.pl

PMID: 15625576

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Substitution
Charcot-Marie-Tooth Disease / genetics*
Humans
Myelin Proteins / genetics*
Point Mutation*
Poland

Substances

Myelin Proteins
PMP22 protein, human