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2004 | 51 | 4 | 1047-1050
Article title

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

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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.
Publisher

Year
Volume
51
Issue
4
Pages
1047-1050
Physical description
Dates
published
2004
received
2004-02-26
revised
2004-06-23
accepted
2004-08-30
Contributors
  • Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
  • Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
References
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Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv51i4p1047kz
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