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KMID : 1130620070030020101
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Journal of Clinical Neurology
2007 Volume.3 No. 2 p.101 ~ p.104
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A Family Harboring CMT1A Duplication and HNPP Deletion
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Lee Jung-Hwa
Kim Sang-Beom
Choi Byung-Ok
Kim Joon-Ki
Chung Ki-Wha
Kang Hee-Jin
Song Hyun-Seok
Cho Sun-Young
Hwang Su-Jin
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Abstract
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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
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KEYWORD
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Charcot-Marie-Tooth disease, HNPP, PMP22
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