title: A Family Harboring CMT1A Duplication and HNPP Deletion.
abstract: Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with duplication of chromosome 17p11.2-p12, whereas hereditary neuropathy with liability to pressure palsies (HNPP), which is an autosomal dominant neuropathy showing characteristics of recurrent pressure palsies, is associated with 17p11.2-p12 deletion. An altered gene dosage of PMP22 is believed to the main cause underlying the CMT1A and HNPP phenotypes. Although CMT1A and HNPP are associated with the same locus, there has been no report of these two mutations within a single family. We report a rare family harboring CMT1A duplication and HNPP deletion.
authors.affiliation: Department of Neurology and Ewha Medical Research Center, Ewha Womans University, Seoul, Korea.
authors.forename: Jung Hwa
authors.initials: JH
authors.lastname: Lee
authors.forename: Hee Jin
authors.initials: HJ
authors.lastname: Kang
authors.forename: Hyunseok
authors.initials: H
authors.lastname: Song
authors.forename: Su Jin
authors.initials: SJ
authors.lastname: Hwang
authors.forename: Sun-Young
authors.initials: SY
authors.lastname: Cho
authors.forename: Sang-Beom
authors.initials: SB
authors.lastname: Kim
authors.forename: Joonki
authors.initials: J
authors.lastname: Kim
authors.forename: Ki Wha
authors.initials: KW
authors.lastname: Chung
authors.forename: Byung-Ok
authors.initials: BO
authors.lastname: Choi