Document Detail


Heterogeneous characteristics of Korean patients with dysferlinopathy.
MedLine Citation:
PMID:  22468107     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
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
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2012-03-21
Journal Detail:
Title:  Journal of Korean medical science     Volume:  27     ISSN:  1598-6357     ISO Abbreviation:  J. Korean Med. Sci.     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-04-02     Completed Date:  2012-07-18     Revised Date:  2013-06-26    
Medline Journal Info:
Nlm Unique ID:  8703518     Medline TA:  J Korean Med Sci     Country:  Korea (South)    
Other Details:
Languages:  eng     Pagination:  423-9     Citation Subset:  IM    
Affiliation:
Department of Neurology, Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Age of Onset
Creatine Kinase / blood
Distal Myopathies / pathology
Female
Humans
Immunohistochemistry
Male
Membrane Proteins / genetics
Middle Aged
Muscle Proteins / genetics
Muscular Atrophy / pathology
Muscular Dystrophies, Limb-Girdle / diagnosis*,  genetics,  pathology
Mutation
Phenotype
Republic of Korea
Tomography, X-Ray Computed
Young Adult
Chemical
Reg. No./Substance:
0/DYSF protein, human; 0/Membrane Proteins; 0/Muscle Proteins; EC 2.7.3.2/Creatine Kinase
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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