A Family Harboring CMT1A Duplication and HNPP Deletion.
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.
Lee
Jung Hwa
JH
Department of Neurology and Ewha Medical Research Center, Ewha Womans University, Seoul, Korea.
Kang
Hee Jin
HJ
Song
Hyunseok
H
Hwang
Su Jin
SJ
Cho
Sun-Young
SY
Kim
Sang-Beom
SB
Kim
Joonki
J
Chung
Ki Wha
KW
Choi
Byung-Ok
BO