title: Deletion in chromosome 17p11.2 including the peripheral myelin protein-22 (PMP-22) gene in hereditary neuropathy with liability to pressure palsies.
abstract: We report the clinical, electrophysiological, and pathological findings of two unrelated Japanese families with hereditary neuropathy with liability to pressure palsies (HNPP) and confirm the findings of a deletion of peripheral myelin protein-22 (PMP-22) gene. Electrophysiological studies revealed slowing of nerve conduction velocities of the affected nerves. Sural nerve biopsy revealed regions of myelin duplication. The copy numbers of PMP-22 gene was lower than that of normal control, suggesting deletion of 17p11.2 including PMP-22 gene. Our results indicate that HNPP in these two Japanese families is attributable to deletion of 17p11.2 including PMP-22 gene.
authors.affiliation: Third Department of Internal Medicine, Kagoshima University School of Medicine, Japan.
authors.forename: F
authors.initials: F
authors.lastname: Umehara
authors.forename: T
authors.initials: T
authors.lastname: Kiwaki
authors.forename: H
authors.initials: H
authors.lastname: Yoshikawa
authors.forename: T
authors.initials: T
authors.lastname: Nishimura
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: W
authors.initials: W
authors.lastname: Matsumoto
authors.forename: K
authors.initials: K
authors.lastname: Hashimoto
authors.forename: S
authors.initials: S
authors.lastname: Izumo
authors.forename: Y
authors.initials: Y
authors.lastname: Arimura
authors.forename: K
authors.initials: K
authors.lastname: Arimura
mesh_terms: D000368:Aged; D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D018628:Gene Dosage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human