title: Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene.
abstract: A 27-year-old man with negative family history and both parents with normal neurological evaluation and motor nerve conduction velocities (MNCVs) showed onset of severe weakness of feet at 4 years of age. Subsequently he developed left equinovarus deformity, thoracic scoliosis, ulnar nerve enlargement, areflexia, distal hypesthesia and slowing of MNCVs for median and ulnar nerves (15-25 m/sec). Molecular genetic studies showed deletion of one nucleotide (G330) (codon 94) in exon 3 of the PMP22 gene associated with frameshift mutation.
authors.affiliation: Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.
authors.forename: V V
authors.initials: VV
authors.lastname: Ionasescu
authors.forename: C C
authors.initials: CC
authors.lastname: Searby
authors.forename: R
authors.initials: R
authors.lastname: Ionasescu
authors.forename: R
authors.initials: R
authors.lastname: Reisin
authors.forename: V
authors.initials: V
authors.lastname: Ruggieri
authors.forename: C
authors.initials: C
authors.lastname: Arberas
mesh_terms: D000328:Adult; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D016368:Frameshift Mutation; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human