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Heterogeneous characteristics of Korean patients with dysferlinopathy
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김승민 | - |
dc.contributor.author | 박형준 | - |
dc.contributor.author | 선우일남 | - |
dc.contributor.author | 신하영 | - |
dc.contributor.author | 최영철 | - |
dc.contributor.author | 홍지만 | - |
dc.date.accessioned | 2014-12-19T17:09:40Z | - |
dc.date.available | 2014-12-19T17:09:40Z | - |
dc.date.issued | 2012 | - |
dc.identifier.issn | 1011-8934 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/90887 | - |
dc.description.abstract | Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of symptom onset was 22.23 ± 7.34 yr. The serum creatine kinase (CK) was highly increased (4- to 101-fold above normal). The pathological findings of muscle specimens showed nonspecific dystrophic features and frequent inflammatory cell infiltration. Muscle imaging studies showed fatty atrophic changes dominantly in the posterolateral muscles of the lower limb. The patients with dysferlinopathy were classified by initial muscle weakness: fifteen patients with Miyoshi myopathy phenotype (MM), thirteen patients with limb girdle muscular dystrophy 2B phenotype (LGMD2B), two patients with proximodistal phenotype, and one asymptomatic patient. There were no differences between LGMD2B and MM groups in terms of onset age, serum CK levels and pathological findings. Dysferlinopathy patients usually have young adult onset and high serum CK levels. However, heterogeneity of clinical presentations and pathologic findings upon routine staining makes it difficult to diagnose dysferlinopathy. These limitations make immunohistochemistry currently the most important method for the diagnosis of dysferlinopathy. | - |
dc.description.statementOfResponsibility | open | - |
dc.relation.isPartOf | JOURNAL OF KOREAN MEDICAL SCIENCE | - |
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 | Adolescent | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Age of Onset | - |
dc.subject.MESH | Creatine Kinase/blood | - |
dc.subject.MESH | Distal Myopathies/pathology | - |
dc.subject.MESH | Dysferlin | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Immunohistochemistry | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Membrane Proteins/genetics | - |
dc.subject.MESH | Middle Aged | - |
dc.subject.MESH | Muscle Proteins/genetics | - |
dc.subject.MESH | Muscular Atrophy/pathology | - |
dc.subject.MESH | Muscular Dystrophies, Limb-Girdle/diagnosis* | - |
dc.subject.MESH | Muscular Dystrophies, Limb-Girdle/genetics | - |
dc.subject.MESH | Muscular Dystrophies, Limb-Girdle/pathology | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | Phenotype | - |
dc.subject.MESH | Republic of Korea | - |
dc.subject.MESH | Tomography, X-Ray Computed | - |
dc.subject.MESH | Young Adult | - |
dc.title | Heterogeneous characteristics of Korean patients with dysferlinopathy | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학) | - |
dc.contributor.googleauthor | Hyung Jun Park | - |
dc.contributor.googleauthor | Ji-Man Hong | - |
dc.contributor.googleauthor | Gyoung Im Suh | - |
dc.contributor.googleauthor | Ha Young Shin | - |
dc.contributor.googleauthor | Seung Min Kim | - |
dc.contributor.googleauthor | Il Nam Sunwoo | - |
dc.contributor.googleauthor | Bum Chun Suh | - |
dc.contributor.googleauthor | Young-Chul Choi | - |
dc.identifier.doi | 22468107 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00653 | - |
dc.contributor.localId | A01758 | - |
dc.contributor.localId | A01936 | - |
dc.contributor.localId | A02170 | - |
dc.contributor.localId | A04116 | - |
dc.contributor.localId | A04439 | - |
dc.relation.journalcode | J01517 | - |
dc.identifier.eissn | 1598-6357 | - |
dc.identifier.pmid | 22468107 | - |
dc.subject.keyword | Dysferlin | - |
dc.subject.keyword | Limb-Girdle Muscular Dystrophy Type 2B | - |
dc.subject.keyword | Miyoshi Myopathy | - |
dc.subject.keyword | mmunohistochemistry | - |
dc.contributor.alternativeName | Kim, Seung Min | - |
dc.contributor.alternativeName | Park, Hyung Jun | - |
dc.contributor.alternativeName | Sunwoo, Il Nam | - |
dc.contributor.alternativeName | Shin, Ha Young | - |
dc.contributor.alternativeName | Choi, Young Chul | - |
dc.contributor.alternativeName | Hong, Ji Man | - |
dc.contributor.affiliatedAuthor | Kim, Seung Min | - |
dc.contributor.affiliatedAuthor | Park, Hyung Jun | - |
dc.contributor.affiliatedAuthor | Sunwoo, Il Nam | - |
dc.contributor.affiliatedAuthor | Shin, Ha Young | - |
dc.contributor.affiliatedAuthor | Choi, Young Chul | - |
dc.contributor.affiliatedAuthor | Hong, Ji Man | - |
dc.citation.volume | 27 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 423 | - |
dc.citation.endPage | 429 | - |
dc.identifier.bibliographicCitation | JOURNAL OF KOREAN MEDICAL SCIENCE, Vol.27(4) : 423-429, 2012 | - |
dc.identifier.rimsid | 33190 | - |
dc.type.rims | ART | - |
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