- Uncleaved Dystrophin Induce Cardiac Myocyte Apoptosis in Coxsackievirus Infected Balb/C Background Mice Heart
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Park JH, Lee HS, Lee YG, Lim BK
- KMID: 1726976
- J Bacteriol Virol.
- 2014 Sep;44(3):261-268.
- doi: 10.4167/jbv.2014.44.3.261
It has been previously demonstrated that dystrophin is cleaved in the cardiac myocyte by the viral protease 2A following infection with Coxsackievirus B3 (CVB3). The viral protease 2A mediated cardiomyopathy... -
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- Molecular and Pathological Diagnosis of Muscular Dystrophies
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Choi YC
- KMID: 2053704
- Hanyang Med Rev.
- 2006 Feb;26(1):77-93.
The muscular dystrophies are a diverse group of inherited muscle disorders characterized by progressive muscle weakness and wasting with characteristic histologic abnormalities such as degeneration, necrosis, and regeneration of muscle... -
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- Sympathetic Skin Response in Patients with Duchenne Muscular Dystrophy
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Jung KI, Kang SW, Moon JH
- KMID: 1960262
- J Korean Acad Rehabil Med.
- 1997 Feb;21(1):87-94.
Duchenne muscular dystrophy(DMD) is an X-linked recessive disease, caused by the mutation of dystrophin gene at Xp21. The dystrophin produced by this gene is therefore absent on the membrane of... -
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- A Study on the Diagnosis of Duchenne Muscular Dystrophy
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Hwang GE, Cho YH, Shim SH, Choi BY, Cha BH, Hwang YY, Chung SR, Choi SK, Kim YJ
- KMID: 2128953
- Korean J Obstet Gynecol.
- 1998 Oct;41(10):2529-2534.
Dystrophin associated muscular dystrophies [dystrophinopathies] range from the severe Duchenne to the milder Becker muscular dystrophy [DMD and BMD]. Mapping and molecular genetic studies indicate that both are the result... -
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- Expression of Caveolin-3 in the Muscle Cell and Tissue
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Kwon BS, Lee SJ, Hyun JK, Jun DJ, Joo HW, Kim BH, Shin DH
- KMID: 2323855
- J Korean Acad Rehabil Med.
- 2003 Jun;27(3):382-387.
OBJECTIVE: Caveolae are the microdomain of the plasma membrane that have been implicated in signal transduction and caveolin is a principal component of the caveolae. Caveolin-3, a family of caveolin... -
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- Clinical, Immunohistochemical, and Genetic Analysis in Dystrophinopathy
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Na SJ, Kang SW, Kim WJ, Kim TS, Choi YC
- KMID: 2137944
- J Korean Neurol Assoc.
- 2004 Oct;22(5):508-515.
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... -
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- Myoblast Transfer Therapy on mdxMouse
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Moon WN, Uhm CS, Park EK, Ahn JY
- KMID: 2425568
- J Korean Orthop Assoc.
- 2002 Apr;37(2):281-287.
PURPOSE: To observe dystrophin formation and histological improvement in dystrophic muscle of mdx mouse after normal myoblast injection. MATERIALS AND METHODS: Cultured myoblasts from genetically normal rats were injected into the... -
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- Immunohistochemical Staining with Anti-Torpedo Dystrophin Antibody in Duchenne Type Muscular Dystrophy
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Kim SY, Lee KW, Cha CI
- KMID: 2065956
- J Korean Neurol Assoc.
- 1993 Mar;11(1):68-77.
Duchenne Muscular dystrophy(DMD) is a debilitating X-linked muscle disease and dyskophin is a muscle membrane protein, which is recently discovered through reverse genetics by Kunkel et al(1987). We evaluate the... -
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- The Diagnosis of Duchenne and Becker Muscular Dystrophy: Multiplex-PCR methods
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Moon WN, Kim YC, Choi SK, Ahn JY, Kim DH, Kim IC
- KMID: 2105577
- J Korean Orthop Assoc.
- 1999 Aug;34(4):763-767.
PURPOSE: The objective of this study is to evaluate the value of multiple-PCR as a diagnostic modality in detection of dystrophin gene deletion by observing its detection rate and concordance... -
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- Significance of Immunohistochemical Study in Patients with Muscular Dystrophy
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Kim DS, Park KH, Nam SO, Lee CH, Park KJ
- KMID: 2343114
- J Korean Neurol Assoc.
- 2004 Dec;22(6):613-622.
BACKGROUND: For the differential diagnosis between the various subtypes of muscular dystrophy, the analysis of the protein expression pattern from the biopsied skeletal muscle tissue is essential. Authors performed the... -
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- Recent Advances in Skeletal Muscle Stem Cells for Duchenne Muscular Dystrophy Treatment
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Yang JY, Jeong J
- KMID: 2129475
- Hanyang Med Rev.
- 2015 Nov;35(4):222-228.
- doi: 10.7599/hmr.2015.35.4.222
Muscle stem cells, which are known as satellite cells have heterogeneous components of committed myogenic progenitors, non-committed satellite cells, and mesenchymal stem cells. This distinguishing organization of self-renewal and differentiation... -
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- Pattern of Exon Deletions of Dystrophin Gene in Korean Patients with Duchenne Muscular Dystrophy
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Kang KJ, Han SS, Woo YJ, Kim MH, Choi C
- KMID: 2323371
- J Korean Acad Rehabil Med.
- 2000 Feb;24(1):93-99.
OBJECTIVE: To investigate the pattern of exon deletions in Korean patients with Duchenne muscular dystrophy (DMD), and to find the correlation of the exon-deletion with clinical symptoms or laboratory findings. METHOD:... -
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- Cognition Associated with Dystrophin Deletion in Duchenne Muscular Dystrophy
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Cho SK, Moon JH, Lee SC, Yoo TW, Ha YR, Park YB, Choi WA
- KMID: 2178490
- J Korean Acad Rehabil Med.
- 2006 Jun;30(3):225-229.
OBJECTIVE: To find correlations between the deletion of dystrophin gene and cognitive status in Duchenne muscular dystrophy (DMD). METHOD: Cognitive abilities of 49 DMD children with dystrophin deletion were tested.... -
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- Deletion of Exon in the Dystrophin Gene in a Case of Becker Muscular Dystrophy with Cardiac Involvement
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Kim KI, Oh BH, Rhee MY, Chae IH, Shin S, Park SS, Kim HS, Sohn DW, Lee MM, Park YB, Choi YS, Lee YW
- KMID: 2229096
- Korean Circ J.
- 1998 May;28(5):805-811.
- doi: 10.4070/kcj.1998.28.5.805
Progressive muscular dystrophy (PMD) is an X-linked recessive primary muscular disease characterized by progressive muscular weakness. It causes gait disturbance and complications such as pneumonia, heart failure, and aspiration, so... -
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- Analysis of haplotype and coamplification PCR of dystrophin gene and Y-specific gene using PEP-PCR in single fetal cells
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Choi SK
- KMID: 1538083
- J Genet Med.
- 1998 Mar;2(1):35-40.
Duchenne and Becker muscular dystrophy are the major neuromuscular disorders with X-linked recessive inheritance. Preimplantation sex determination has been generally used to avoid pregnancies with these diseases. However, in order... -
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- Treatment of Duchenne Muscular Dystrophy: A Comprehensive Review
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Park HJ, Choi YC
- KMID: 2191517
- J Korean Neurol Assoc.
- 2012 Nov;30(4):257-266.
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder due to the loss of dystrophin in muscle fiber. The deficiency of dystrophin produces severe progressive muscle degeneration which leads to... -
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- Clinical Usefulness of Molecular Diagnosis in Dystrophin Gene Mutations Using the Multiplex Ligation-dependent Probe Amplification (MLPA) Method
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Cho H, Hong JM, Lee KA, Choi YC
- KMID: 1454823
- J Korean Neurol Assoc.
- 2010 Feb;28(1):22-26.
BACKGROUND: Duchenne/Becker muscular dystrophy (DMD/BMD), which is the most common X-linked muscular dystrophy, is caused by mutations in the dystrophin gene. These mutations comprise deletions in approximately 55~65% of patients,... -
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- Analyses of Dystrophin Gene and Sex Determination using PEP-PCR in Single Fetal Cells
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Choi SK, Kim JW, Cho EH, Park SY, Ryu HM, Kang IS
- KMID: 1930556
- Korean J Fertil Steril.
- 1997 Apr;24(1):51-56.
Recently, through the development of the primer extension preamplification(PEP) method which amplifies the whole genome, simultaneous multiple DNA analysis has become possible. Whole genome from each single cell can be... -
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- Whole Exome Sequencing of a Patient with Duchenne Muscular Dystrophy
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Choi BS, Hwang SK
- KMID: 2329273
- J Korean Child Neurol Soc.
- 2014 Mar;22(1):25-28.
Duchenne muscular dystrophy (DMD) is the most common and lethal dystrophy in childhood, caused by mutations in the dystrophin (DMD) gene. Multiplex ligation dependent probe amplification (MLPA) or array comparative... -
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- Gene Therapy for Muscular Dystrophies: Progress and Challenges
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Park KS, Oh D
- KMID: 1462846
- J Clin Neurol.
- 2010 Sep;6(3):111-116.
- doi: 10.3988/jcn.2010.6.3.111
Muscular dystrophies are groups of inherited progressive diseases of the muscle caused by mutations of diverse genes related to normal muscle function. Although there is no current effective treatment for... -
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