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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Authors: | Kochański Andrzej Kabzińska Dagmara |
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Institution: | Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland. andko@cmdik.pan.pl |
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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. |
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