Cited 4 times in
A Case of Congenital Neuromuscular Disease with Uniform Type 1 Fiber
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 강성웅 | - |
dc.contributor.author | 이경열 | - |
dc.contributor.author | 최영철 | - |
dc.date.accessioned | 2015-07-14T17:27:17Z | - |
dc.date.available | 2015-07-14T17:27:17Z | - |
dc.date.issued | 2004 | - |
dc.identifier.issn | 0513-5796 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/112915 | - |
dc.description.abstract | Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare but distinct form of nonprogressive, congenital myopathy. CMNDU1 is characterized by a type 1 muscle fiber content of more than 99%. This condition has only been previously described in a few reports. The authors report an 11-year-old girl who exhibited delayed developmental milestones, proximal muscle weakness, and bilateral ptosis. Her serum creatine kinase level was normal but an electromyographic study showed myopathic changes. A biopsy specimen from the left deltoid muscle revealed a uniformity of type 1 fibers (greater than 99%) with a moderate variation in fiber size. This is the first case of CNMDU1 reported in Korea. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 150~152 | - |
dc.relation.isPartOf | YONSEI MEDICAL JOURNAL | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Biopsy | - |
dc.subject.MESH | Child | - |
dc.subject.MESH | Developmental Disabilities/pathology* | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Muscle Fibers, Slow-Twitch/pathology* | - |
dc.subject.MESH | Muscle, Skeletal/pathology* | - |
dc.subject.MESH | Neuromuscular Diseases/congenital | - |
dc.subject.MESH | Neuromuscular Diseases/pathology* | - |
dc.title | A Case of Congenital Neuromuscular Disease with Uniform Type 1 Fiber | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학) | - |
dc.contributor.googleauthor | Sang Jun Na | - |
dc.contributor.googleauthor | Seong Woong Kang | - |
dc.contributor.googleauthor | Kee Oog Lee | - |
dc.contributor.googleauthor | Kyung Yul Lee | - |
dc.contributor.googleauthor | Tai Seung Kim | - |
dc.contributor.googleauthor | Young Chul Choi | - |
dc.identifier.doi | 10.3349/ymj.2004.45.1.150 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00041 | - |
dc.contributor.localId | A02648 | - |
dc.contributor.localId | A04116 | - |
dc.relation.journalcode | J02813 | - |
dc.identifier.eissn | 1976-2437 | - |
dc.identifier.pmid | 15004883 | - |
dc.contributor.alternativeName | Kang, Seong Woong | - |
dc.contributor.alternativeName | Lee, Kyung Yul | - |
dc.contributor.alternativeName | Choi, Young Chul | - |
dc.contributor.affiliatedAuthor | Kang, Seong Woong | - |
dc.contributor.affiliatedAuthor | Lee, Kyung Yul | - |
dc.contributor.affiliatedAuthor | Choi, Young Chul | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 45 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 150 | - |
dc.citation.endPage | 152 | - |
dc.identifier.bibliographicCitation | YONSEI MEDICAL JOURNAL, Vol.45(1) : 150-152, 2004 | - |
dc.identifier.rimsid | 36791 | - |
dc.type.rims | ART | - |
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