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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
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.
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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
김승민(Kim, Seung Min) ORCID logo https://orcid.org/0000-0002-4384-9640
박형준(Park, Hyung Jun)
선우일남(Sunwoo, Il Nam)
신하영(Shin, Ha Young) ORCID logo https://orcid.org/0000-0002-4408-8265
최영철(Choi, Young Chul) ORCID logo https://orcid.org/0000-0001-5525-6861
홍지만(Hong, Ji Man) ORCID logo https://orcid.org/0000-0002-0696-8448
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/90887
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