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얼굴어깨위팔근육디스트로피의 임상적 특징과 유전학적 분석
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김승민 | - |
dc.contributor.author | 선우일남 | - |
dc.contributor.author | 최영철 | - |
dc.date.accessioned | 2015-04-24T16:41:32Z | - |
dc.date.available | 2015-04-24T16:41:32Z | - |
dc.date.issued | 2009 | - |
dc.identifier.issn | 1225-7004 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/103992 | - |
dc.description.abstract | Background: Facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of the polymorphic D4Z4-repeat array in 4q35 and has the distinctive clinical presentation of an initial involvement of the facial, shoulder-girdle, and upper-arm muscles. The aim of the present study was to determine clinical characteristics in Korean patients with FSHD and potential relationships between contracted D4Z4-repeat size and the FSHD phenotype. Methods: We studied 34 genetically confirmed patients who had repeat sizes less than 38 kb, and analyzed their clinical manifestations with a structured protocol. The expressed phenotypes were scored according to the Clinical Severity Score formulated by Ricci and van Overveld. Results: The clinical spectrum ranged widely, from asymptomatic individuals with minimal signs to wheelchairbound patients. The initial affects were mainly in the facial muscles (68.8%), followed by the shoulder-girdle muscle (28.1%). Asymmetric features of the face and shoulder girdle were also important findings (71.9% and 90.0%, respectively). Winging scapular (87.5%), transverse smile (84.4%), Beevor’s sign (68.8%), and sleeping with eyes opened (59.4%) were clinically important signs. There was a significant negative correlation between repeat size and clinical severity (r=-0.38, p=0.03). Conclusions: Distinctive clinical characteristics of FSHD are descending progression and asymmetric distribution of the muscle weakness. Our results also confirmed that the severity of FSHD increases with decreasing D4Z4-repeat size. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 42~48 | - |
dc.relation.isPartOf | Journal of the Korean Neurological Association | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | 얼굴어깨위팔근육디스트로피의 임상적 특징과 유전학적 분석 | - |
dc.title.alternative | Clinical Features and Genetic Analysis of Fascioscapulohumeral Muscular Dystrophy | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학) | - |
dc.contributor.googleauthor | 홍지만 | - |
dc.contributor.googleauthor | 김승민 | - |
dc.contributor.googleauthor | 선우일남 | - |
dc.contributor.googleauthor | 서권덕 | - |
dc.contributor.googleauthor | 심동석 | - |
dc.contributor.googleauthor | 서범천 | - |
dc.contributor.googleauthor | 김대성 | - |
dc.contributor.googleauthor | 조정희 | - |
dc.contributor.googleauthor | 최영철 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00653 | - |
dc.contributor.localId | A01936 | - |
dc.contributor.localId | A04116 | - |
dc.relation.journalcode | J01835 | - |
dc.subject.keyword | Facioscapulohumeral muscular dystrophy | - |
dc.subject.keyword | Clinical characteristics | - |
dc.subject.keyword | Severity | - |
dc.subject.keyword | Genotype | - |
dc.contributor.alternativeName | Kim, Seung Min | - |
dc.contributor.alternativeName | Sunwoo, Il Nam | - |
dc.contributor.alternativeName | Choi, Young Chul | - |
dc.contributor.affiliatedAuthor | Kim, Seung Min | - |
dc.contributor.affiliatedAuthor | Sunwoo, Il Nam | - |
dc.contributor.affiliatedAuthor | Choi, Young Chul | - |
dc.citation.volume | 27 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 42 | - |
dc.citation.endPage | 48 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Neurological Association, Vol.27(1) : 42-48, 2009 | - |
dc.identifier.rimsid | 46750 | - |
dc.type.rims | ART | - |
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