title: 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.affiliation: Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland. andko@cmdik.pan.pl
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kochański
authors.forename: Dagmara
authors.initials: D
authors.lastname: Kabzińska
mesh_terms: D019943:Amino Acid Substitution; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D006801:Humans; D009185:Myelin Proteins / Q000235:genetics*; D017354:Point Mutation; D011044:Poland
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human