Cited 5 times in
Congenital muscular dystrophy type 1A with residual merosin expression
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 강훈철 | - |
dc.contributor.author | 김흥동 | - |
dc.contributor.author | 박형준 | - |
dc.contributor.author | 이영목 | - |
dc.contributor.author | 이준수 | - |
dc.contributor.author | 최영철 | - |
dc.date.accessioned | 2015-01-06T17:20:35Z | - |
dc.date.available | 2015-01-06T17:20:35Z | - |
dc.date.issued | 2014 | - |
dc.identifier.issn | 1738-1061 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/99801 | - |
dc.description.abstract | Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin α2 (LAMA2 ) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin α2)- deficient skeletal muscles. However, the degree of merosin expression ranges from total absence to partial reduction. Patients with residual merosin expression have more variable and milder phenotypes than those with absolute merosin deficiency. We observed a Korean girl with MDC1A with residual merosin expression. Clinical presentation of this patient was typical except for late onset of the disease and external capsule involvement. Immunohistochemical staining of muscle fibers including merosin, is important to evaluate patients with hypotonia, delayed motor development, and abnormal white matter changes. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 149~152 | - |
dc.language | Korean | - |
dc.publisher | 대한소아과학회 | - |
dc.relation.isPartOf | Korean Journal of Pediatrics | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Congenital muscular dystrophy type 1A with residual merosin expression | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학) | - |
dc.contributor.googleauthor | Hyo Jeong Kim | - |
dc.contributor.googleauthor | Young-Chul Choi | - |
dc.contributor.googleauthor | Hyung Jun Park | - |
dc.contributor.googleauthor | Young-Mock Lee | - |
dc.contributor.googleauthor | Heung Dong Kim | - |
dc.contributor.googleauthor | Joon Soo Lee | - |
dc.contributor.googleauthor | Hoon Chul Kang | - |
dc.identifier.doi | 10.3345/kjp.2014.57.3.149 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00102 | - |
dc.contributor.localId | A01208 | - |
dc.contributor.localId | A01758 | - |
dc.contributor.localId | A02955 | - |
dc.contributor.localId | A03177 | - |
dc.contributor.localId | A04116 | - |
dc.relation.journalcode | J02100 | - |
dc.identifier.eissn | 2092-7258 | - |
dc.identifier.pmid | 24778697 | - |
dc.subject.keyword | Immunohistochemistry | - |
dc.subject.keyword | Laminin alpha2 | - |
dc.subject.keyword | Merosin-deficient congenital muscular dystrophy | - |
dc.contributor.alternativeName | Kang, Hoon Chul | - |
dc.contributor.alternativeName | Kim, Heung Dong | - |
dc.contributor.alternativeName | Park, Hyung Jun | - |
dc.contributor.alternativeName | Lee, Young Mock | - |
dc.contributor.alternativeName | Lee, Joon Soo | - |
dc.contributor.alternativeName | Choi, Young Chul | - |
dc.contributor.affiliatedAuthor | Kang, Hoon Chul | - |
dc.contributor.affiliatedAuthor | Kim, Heung Dong | - |
dc.contributor.affiliatedAuthor | Park, Hyung Jun | - |
dc.contributor.affiliatedAuthor | Lee, Young Mock | - |
dc.contributor.affiliatedAuthor | Lee, Joon Soo | - |
dc.contributor.affiliatedAuthor | Choi, Young Chul | - |
dc.citation.volume | 57 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 149 | - |
dc.citation.endPage | 152 | - |
dc.identifier.bibliographicCitation | Korean Journal of Pediatrics, Vol.57(3) : 149-152, 2014 | - |
dc.identifier.rimsid | 49609 | - |
dc.type.rims | ART | - |
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