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

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.

• Authors: Andrzej Kochański, Dagmara Kabzińska
• Journal: Acta biochimica Polonica (Acta Biochim Pol) Vol. 51 Issue 4 Pg. 1047-50 ( 2004) ISSN: 0001-527X [Print] Poland
• PMID: 15625576 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Myelin Proteins
• PMP22 protein, human

Topics

• Amino Acid Substitution
• Charcot-Marie-Tooth Disease (genetics)
• Humans
• Myelin Proteins (genetics)
• Point Mutation
• Poland