Detailed Information

Cited 4 time in webofscience Cited 5 time in scopus
Metadata Downloads

Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy

Authors
Lee, J[Lee, Jeehun]Lee, BL[Lee, Bo Lyun]Lee, M[Lee, Munhyang]Kim, JH[Kim, Ji Hye]Kim, JW[Kim, Jong-Won]Ki, CS[Ki, Chang-Seok]
Issue Date
15-Jun-2009
Publisher
ELSEVIER SCIENCE BV
Keywords
Fukuyama congenital muscular dystrophy; Korean; Mutation
Citation
JOURNAL OF THE NEUROLOGICAL SCIENCES, v.281, no.1-2, pp.122 - 124
Indexed
SCIE
SCOPUS
Journal Title
JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume
281
Number
1-2
Start Page
122
End Page
124
URI
https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/77605
DOI
10.1016/j.jns.2009.02.373
ISSN
0022-510X
Abstract
Fukuyama congenital muscular dystrophy (FCMD) is an autosomal recessive disorder with early onset severe muscular dystrophy and neuronal migration disturbances. Although FCMD is the second most common muscular dystrophy in Japan, there has been no report of FCMD in Korea. Recently, we found a 10-year-old Korean boy with characteristic clinical features of FCMD. A PCR-based diagnostic method to detect the 3-kb retrotransposal insertion in the 3' non-coding region of the fukutin (FKTN) gene revealed that the patient was homozygous for the insertion Mutation and his parents were heterozygous carriers of the same mutation. To the best of our knowledge, this is the first report of a clinically and genetically confirmed Korean patient with FCMD and the first non-Japanese patient carrying homozygous founder insertion mutation. (C) 2009 Elsevier B.V. All rights reserved.
Files in This Item
There are no files associated with this item.
Appears in
Collections
Medicine > Department of Medicine > 1. Journal Articles

qrcode

Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.

Related Researcher

Researcher KIM, JI HYE photo

KIM, JI HYE
Medicine (Medicine)
Read more

Altmetrics

Total Views & Downloads

BROWSE