title: A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
abstract: We describe a Cypriot family in which some family members presented with episodes of pressure palsies, while other family members had a slowly progressive chronic polyneuropathy typical of the Charcot-Marie-Tooth type 1 phenotype. All family members were evaluated clinically, with nerve conduction studies, and with genetic testing. In all affected individuals there was clinical and electrophysiological evidence of diffuse demyelinating sensorimotor polyneuropathy and a novel point mutation in the PMP22 gene (Ser22Phe) was identified.
authors.affiliation: Department of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. kleopa@cing.ac.cy
authors.forename: Kleopas A
authors.initials: KA
authors.lastname: Kleopa
authors.forename: Domna-Maria
authors.initials: DM
authors.lastname: Georgiou
authors.forename: Paschalis
authors.initials: P
authors.lastname: Nicolaou
authors.forename: Pantelitsa
authors.initials: P
authors.lastname: Koutsou
authors.forename: Eleftherios
authors.initials: E
authors.lastname: Papathanasiou
authors.forename: Theodoros
authors.initials: T
authors.lastname: Kyriakides
authors.forename: Kyproula
authors.initials: K
authors.lastname: Christodoulou
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D004594:Electrophysiology; D005091:Exons; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics*; D009474:Neurons / Q000378:metabolism; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D010641:Phenotype; D010649:Phenylalanine / Q000737:chemistry; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D012694:Serine / Q000737:chemistry
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human; D012694:Serine; D010649:Phenylalanine