title: Porphyria presenting with bilateral radial motor neuropathy: evidence of a novel gene mutation.
abstract: The authors identified a novel mutation of the porphobilinogen deaminase (PBG-D) gene in a patient with acute intermittent porphyria presenting with severe and bilateral axonal radial motor neuropathy. Electrophysiologic studies revealed prominent involvement of distal radial nerves in the setting of mild polyneuropathy. Analysis of the PBG-D gene revealed a single base-pair insertion (887insA) in exon 14.
authors.affiliation: Department of Neurology, University of Alabama at Birmingham and the Birmingham VA Medical Center, 32594, USA. pking@uab.edu
authors.forename: Peter H
authors.initials: PH
authors.lastname: King
authors.forename: Niels E
authors.initials: NE
authors.lastname: Petersen
authors.forename: Ron
authors.initials: R
authors.lastname: Rakhra
authors.forename: William E
authors.initials: WE
authors.lastname: Schreiber
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011164:Porphyrias / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D020425:Radial Neuropathy / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D018709:Statistics, Nonparametric
chemical_list: D011163:Hydroxymethylbilane Synthase