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Heterogeneous characteristics of Korean patients with dysferlinopathy

Authors
 Hyung Jun Park  ;  Ji-Man Hong  ;  Gyoung Im Suh  ;  Ha Young Shin  ;  Seung Min Kim  ;  Il Nam Sunwoo  ;  Bum Chun Suh  ;  Young-Chul Choi 
Citation
 JOURNAL OF KOREAN MEDICAL SCIENCE, Vol.27(4) : 423-429, 2012 
Journal Title
JOURNAL OF KOREAN MEDICAL SCIENCE
ISSN
 1011-8934 
Issue Date
2012
MeSH
Adolescent ; Adult ; Age of Onset ; Creatine Kinase/blood ; Distal Myopathies/pathology ; Dysferlin ; Female ; Humans ; Immunohistochemistry ; Male ; Membrane Proteins/genetics ; Middle Aged ; Muscle Proteins/genetics ; Muscular Atrophy/pathology ; Muscular Dystrophies, Limb-Girdle/diagnosis* ; Muscular Dystrophies, Limb-Girdle/genetics ; Muscular Dystrophies, Limb-Girdle/pathology ; Mutation ; Phenotype ; Republic of Korea ; Tomography, X-Ray Computed ; Young Adult
Keywords
Dysferlin ; Limb-Girdle Muscular Dystrophy Type 2B ; Miyoshi Myopathy ; mmunohistochemistry
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.
Files in This Item:
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DOI
10.3346/jkms.2012.27.4.423
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Park, Hyung Jun(박형준)
Sunwoo, Il Nam(선우일남)
Shin, Ha Young(신하영) ORCID logo https://orcid.org/0000-0002-4408-8265
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
Hong, Ji Man(홍지만) ORCID logo https://orcid.org/0000-0002-0696-8448
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/90887
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