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Dystrophinopathy 환자의 임상적, 면역조직화학적 및 유전학적 분석

Other Titles
 Clinical, Immunohistochemical, and Genetic Analysis in Dystrophinopathy 
 나상준  ;  강성웅  ;  최영철  ;  김태승  ;  김원주 
 Journal of the Korean Neurological Association, Vol.22(5) : 508-515, 2004 
Journal Title
Journal of the Korean Neurological Association
Issue Date
Dystrophin ; Muscular Dystrophies ; Immunohistochemistry
Background: Dystrophin deficient muscular dystrophies (dystrophinopathies) are the most common form of muscular dystrophy with variable clinical phenotypes from the severe Duchenne to the milder Becker forms (DMD/BMD). Dystrophinopathies are X-linked recessive diseases caused by the mutation of the dystrophin gene. Western blot and immunohistochemical staining for dystrophin, and exon deletion analysis by multiplex polymerase chain reaction (PCR) are important diagnostic tools. We investigated the relationship between the clinical characteristics, immunohistochemistry for dystrophin, and the pattern of exon deletions in patients with dystrophinopathy.

Methods: We reviewed the clinical and laboratory findings of 35 male patients diagnosed as DMD/BMD. Genomic DNA of the 35 patient was analyzed by multiplex PCR using 19 primer sets of dystrophin gene. Immunohistochemistry for dystrophin of muscle biopsy tissue was performed in all cases.

Results: The mean age of symptom onset in 35 patients was 4.6±2.7 years [range, 2-15 years]. Twenty-four of 35 (68.6%) patients showed complete loss (C-, Rod-, N terminal), and 11 of 35 (31.4%) patient showed incomplete loss of dystrophin in immunohistochemistry. Of the 35 patients, 20 had deletions (57%) by multiplex PCR
analysis. Sixteen of 20 patients (80%) had exon deletions between exon 45 and 52.

Conclusions: Immunohistochemistry of biopsied muscle specimen is an important diagnostic method for expression and localization of dystrophin. The exon
deletion analysis by multiplex PCR using peripheral blood is also a simple and useful test for the diagnosis of dystrophinopathies, although it has limited sensitivity.
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
Yonsei Authors
Kang, Seong Woong(강성웅) ORCID logo https://orcid.org/0000-0002-7279-3893
Kim, Won Joo(김원주) ORCID logo https://orcid.org/0000-0002-5850-010X
Kim, Tai Seung(김태승)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
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