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원위형 척수성 근위축증과 감별된 제III형 근위형 척수성 근위축증 1례-증례 보고-
DC Field | Value | Language |
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dc.contributor.author | 문재호 | - |
dc.contributor.author | 박윤길 | - |
dc.contributor.author | 이수현 | - |
dc.contributor.author | 이상철 | - |
dc.date.accessioned | 2014-12-21T16:54:10Z | - |
dc.date.available | 2014-12-21T16:54:10Z | - |
dc.date.issued | 2007 | - |
dc.identifier.issn | 1225-584X | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/96567 | - |
dc.description.abstract | Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by progressive anterior horn cell degeneration leading to motor weakness, muscular atrophy and denervation. Recently, the genes responsible for proximal muscular atrophy have been identified and named as survivor motor neuron (SMN) and neuronal apoptosis inhibitory protein genes. The clinical symptoms, courses and evaluation findings of proximal SMA type III are similar to those of distal SMA and proximal muscle myopathies such as limb girdle muscular dystrophy and fascioscapulohumeral muscular dystrophy. It cannot be diagnosed with muscle biopsy and electromyographic findings exclusively. In our case, the patient showed similar clinical manifestations of distal SMA. So we couldn't diagnose this case as SMA type III until we detected SMN 1 gene deletion. This case could be a good model for diagnostic approach to SMA type III and differential diagnosis to similar diseases. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.relation.isPartOf | Journal of the Korean Academy of Rehabilitation Medicine (대한재활의학회지) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | 원위형 척수성 근위축증과 감별된 제III형 근위형 척수성 근위축증 1례-증례 보고- | - |
dc.title.alternative | A Case of Type III Proximal Spinal Muscular Atrophy Distinguished from Distal Spinal Muscular Atrophy-A case report- | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Rehabilitation Medicine (재활의학) | - |
dc.contributor.googleauthor | 김형섭 | - |
dc.contributor.googleauthor | 이상철 | - |
dc.contributor.googleauthor | 박윤길 | - |
dc.contributor.googleauthor | 문재호 | - |
dc.contributor.googleauthor | 이수현 | - |
dc.contributor.googleauthor | 박용범 | - |
dc.contributor.googleauthor | 조수경 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A02901 | - |
dc.contributor.localId | A01377 | - |
dc.contributor.localId | A01596 | - |
dc.relation.journalcode | J01803 | - |
dc.subject.keyword | Motor neuron disease | - |
dc.subject.keyword | Proximal spinal muscular atrophy type III | - |
dc.subject.keyword | Survivor motor neuron gene | - |
dc.contributor.alternativeName | Moon, Jae Ho | - |
dc.contributor.alternativeName | Park, Yoon Ghil | - |
dc.contributor.alternativeName | Lee, Soo Hyeon | - |
dc.contributor.affiliatedAuthor | Lee, Soo Hyeon | - |
dc.contributor.affiliatedAuthor | Moon, Jae Ho | - |
dc.contributor.affiliatedAuthor | Park, Yoon Ghil | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 31 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 113 | - |
dc.citation.endPage | 118 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Academy of Rehabilitation Medicine, Vol.31(1) : 113-118, 2007 | - |
dc.identifier.rimsid | 36311 | - |
dc.type.rims | ART | - |
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