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Nemaline Myopathy - Enzyme Histochemical and Ultrastructural Study-
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Park, Sung Hye | - |
dc.contributor.author | Chi, Je Geun | - |
dc.contributor.author | Hwang, Yong Seung | - |
dc.date.accessioned | 2009-08-20T05:19:02Z | - |
dc.date.available | 2009-08-20T05:19:02Z | - |
dc.date.issued | 1990-09 | - |
dc.identifier.citation | Seoul J Med, Vol.31 No.3, pp. 183-190 | - |
dc.identifier.issn | 0582-6802 | - |
dc.identifier.uri | https://hdl.handle.net/10371/7316 | - |
dc.description.abstract | We describe two cases of congenital nemaline myopathy presented with
gait disturbance due to calcaneocavovalgus deformity. They showed characteristic dysmorphic features, i.e., an elongated face, antegraded chin, and high-arched palate. Both cases revealed delayed motor milestones and flaccid extremities. However, sensory modalities were normal. Intelligence was not retarded. Muscle biopsy showed characteristic findings of nemaline myopathy, i.e., variation in muscle fiber size, type I fiber predominance, distinct rod-shaped inclusions in phosphotungstic acid hematoxylin, and modified Gomori's stains. Ultrastructurally, the inclusions are confirmed as a Z-Iine-Iike threadbody. | - |
dc.language.iso | en | - |
dc.publisher | Seoul National University College of Medicine | - |
dc.subject | Congenital myopathy | - |
dc.subject | Nemaline myopathy | - |
dc.subject | Dysmorphic features | - |
dc.subject | Rod body | - |
dc.subject | Muscle | - |
dc.title | Nemaline Myopathy - Enzyme Histochemical and Ultrastructural Study- | - |
dc.type | SNU Journal | - |
dc.contributor.AlternativeAuthor | 박성혜 | - |
dc.contributor.AlternativeAuthor | 지제근 | - |
dc.contributor.AlternativeAuthor | 황용승 | - |
dc.citation.journaltitle | 서울 의대 잡지 | - |
dc.citation.journaltitle | 서울 의대 학술지 | - |
dc.citation.journaltitle | Seoul Journal of Medicine | - |
dc.citation.endpage | 190 | - |
dc.citation.number | 3 | - |
dc.citation.pages | 183-190 | - |
dc.citation.startpage | 183 | - |
dc.citation.volume | 31 | - |
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