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A family harboring CMT1A duplication and HNPP deletion

Title
A family harboring CMT1A duplication and HNPP deletion
Authors
Lee, Jung HwaKang, Hee JinSong, HyuneokHwang, Su JinCho, Sun-YoungKim, Sang-BeomKim, JoonkiChung, Ki WhaChoi, Byung-Ok
Ewha Authors
최병옥
Issue Date
2007
Journal Title
JOURNAL OF CLINICAL NEUROLOGY
ISSN
1738-6586JCR Link
Citation
vol. 3, no. 2, pp. 101 - 104
Keywords
Charcot-Marie-Tooth diseaseHNPPPMP22
Publisher
KOREAN NEUROLOGICAL ASSOC
Indexed
SCIE; SCOPUS; KCI WOS
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.
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의과대학 > 의학과 > Journal papers
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