title: Hereditary neuropathy with liability to pressure palsy.
abstract: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disease with sensory and motor nerve palsies usually precipitated by trivial trauma or compression. In the majority of cases HNPP is caused by deletion of the peripheral myelin protein 22 gene (PMP22) on chromosome 17p11.2. The authors present a family case with genetically proven HNPP.
authors.affiliation: Department of Paediatrics and Child Neurology, Medical University of Silesia, Upper Silesian Child and Mother Health Institute, ul. Medyków 16, 40-752 Katowice, Poland. justyna.paprocka@interia.pl
authors.forename: Justyna
authors.initials: J
authors.lastname: Paprocka
authors.forename: Maciej
authors.initials: M
authors.lastname: Kajor
authors.forename: Ewa
authors.initials: E
authors.lastname: Jamroz
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Jezela-Stanek
authors.forename: Pavel
authors.initials: P
authors.lastname: Seeman
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Marszał
mesh_terms: D000293:Adolescent; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D006801:Humans; D009185:Myelin Proteins / Q000235:genetics*; D010243:Paralysis / Q000209:etiology / Q000235:genetics*; D011312:Pressure
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human