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Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea
DC Field | Value | Language |
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dc.contributor.author | Lim, Bung Chan | - |
dc.contributor.author | Ki, Chang-Seok | - |
dc.contributor.author | Kim, Jong-Won | - |
dc.contributor.author | Cho, Anna | - |
dc.contributor.author | Hwang, Hee | - |
dc.contributor.author | Hwang, Yong Seung | - |
dc.contributor.author | Lim, Yun-Jung | - |
dc.contributor.author | Lee, Jun Su | - |
dc.contributor.author | Chae, Jong Hee | - |
dc.contributor.author | Kim, In One | - |
dc.contributor.author | Park, Woong Yang | - |
dc.contributor.author | Kim, Ki Joong | - |
dc.contributor.author | Kim, Min Jung | - |
dc.date.accessioned | 2012-06-05T05:24:19Z | - |
dc.date.available | 2012-06-05T05:24:19Z | - |
dc.date.issued | 2010-08 | - |
dc.identifier.citation | NEUROMUSCULAR DISORDERS; Vol.20 8; 524-530 | ko_KR |
dc.identifier.issn | 0960-8966 | - |
dc.identifier.uri | https://hdl.handle.net/10371/76845 | - |
dc.description.abstract | This study was aimed to identify Fukutin (FKTN)-related congenital muscular dystrophies (CMD) with defective a-dystroglycan glycosylation in Korea and to discuss their genotype-phenotype spectrum focusing on detailed brain magnetic resonance imaging (MRI) findings. FKTN mutations were found in nine of the 12 CMD patients with defective a-dystroglycan glycosylation patients (75%). Two patients were homozygous for the Japanese founder retrotransposal insertion mutation. Seven patients were heterozygous for the retrotransposal insertion mutation, five of whom carried a novel intronic mutation that activates a pseudoexon between exons 5 and 6 (c.647+2084G>T). Compared with individuals that were homozygous for the retrotransposal insertion mutation, the seven heterozygotes for the retrotransposal insertion mutation, including five patients with the novel pseudoexon mutation, exhibited a more severe clinical phenotype in terms of motor abilities and more extensive brain MRI abnormalities (i.e., a wider distribution of cortical malformation and pons and cerebellar hypoplasia). FKTN mutations are the most common genetic cause of CMD with defective a-dystroglycan glycosylation in Korea. Compound heterozygosity of the retrotransposal insertion and the novel pseudoexon mutation is the most prevalent genotype in Korea and is associated with a more severe clinical and radiological phenotype compared with homozygosity for the retrotransposal insertion mutation. (C) 2010 Elsevier B.V. All rights reserved. | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | PERGAMON-ELSEVIER SCIENCE LTD | ko_KR |
dc.subject | Muscular dystrophy | ko_KR |
dc.subject | Congenital | ko_KR |
dc.subject | Dystroglycan | ko_KR |
dc.subject | Mutation | ko_KR |
dc.title | Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 임병찬 | - |
dc.contributor.AlternativeAuthor | 기창석 | - |
dc.contributor.AlternativeAuthor | 김종원 | - |
dc.contributor.AlternativeAuthor | 조안나 | - |
dc.contributor.AlternativeAuthor | 김민정 | - |
dc.contributor.AlternativeAuthor | 황희 | - |
dc.contributor.AlternativeAuthor | 김기중 | - |
dc.contributor.AlternativeAuthor | 황용승 | - |
dc.contributor.AlternativeAuthor | 박웅양 | - |
dc.contributor.AlternativeAuthor | 임윤정 | - |
dc.contributor.AlternativeAuthor | 김인원 | - |
dc.contributor.AlternativeAuthor | 이준수 | - |
dc.contributor.AlternativeAuthor | 채종희 | - |
dc.identifier.doi | 10.1016/j.nmd.2010.06.005 | - |
dc.citation.journaltitle | NEUROMUSCULAR DISORDERS | - |
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dc.description.tc | 0 | - |
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