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

• Authors: Andrzej Kochański , Dagmara Kabzińska
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

S72L mutation; PMP22 gene mutations

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2004
• Volume: 51
• Issue: 4
• Pages: 1047-1050

Dates

published

2004

received

2004-02-26

revised

2004-06-23

accepted

2004-08-30

Contributors

author

Andrzej Kochański

• Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland

author

Dagmara Kabzińska

• Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland

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