De novo Ser72Leu mutation in peripheral myelin protein 22 in two Polish patients with severe CMT

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

De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish

patients with a severe form of Charcot-Marie-Tooth disease.

Kochanski A, Kabzinska D.

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

Warszawa, Poland.

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.

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