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

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Kochanski A., Kabzinska D.

Acta Biochimica Polonica

2004

tom 51

nr 4

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.

Ograniczanie wyników

1 Acta Biochimica Polonica

1 Kabzinska D.

1 Kochanski A.

1 2004

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