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Pathologically and Genetically Diagnosed Subclinical Symptomatic Duchenne Muscular Dystrophy Carrier: Broadened Spectrum of Clinical Phenotype

Cho MS, Lee JM

A 29-year-old female presented with an elevated level of serum creatine kinase without subjective weakness. Neurologic examination showed the subtle motor weakness of the right arm. Muscle biopsy showed dystrophic...
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The Mini-Mental State Examination (MMSE) as a Cognitive Screening Tool in Duchenne Muscular Dystrophy

Nardes F, Araújo APd, Ribeiro MG, Bittar M, Gomes HF

cogniPurpose: Given that intellectual disability affects 15% to 63% of boys with Duchenne muscular dystrophy (DMD), it is relevant to evaluate if the Mini-Mental State Examination (MMSE) is a reliable test...
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Recent Advances in Skeletal Muscle Stem Cells for Duchenne Muscular Dystrophy Treatment

Yang JY, Jeong J

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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Clinical and Genetic Characterization of Female Dystrophinopathy

Lee SH, Lee JH, Lee KA, Choi YC

BACKGROUND AND PURPOSE: Duchenne and Becker muscular dystrophies are the most common X-linked recessive muscular dystrophies. Dystrophin gene mutations usually affect men, but reportedly 2.5-7.8% of women are affected and...
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Uncleaved Dystrophin Induce Cardiac Myocyte Apoptosis in Coxsackievirus Infected Balb/C Background Mice Heart

Park JH, Lee HS, Lee YG, Lim BK

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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Whole Exome Sequencing of a Patient with Duchenne Muscular Dystrophy

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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The Correlation Analysis of Functional Factors and Age with Duchenne Muscular Dystrophy

Jung IY, Chae JH, Park SK, Kim JH, Kim JY, Kim SJ, Bang MS

OBJECTIVE: To correlate existing evaluation tools with clinical information on Duchenne muscular dystrophy (DMD) patients following age and to investigate genetic mutation and its relationship with clinical function. METHOD: The medical...
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Three Cases of Manifesting Female Carriers in Patients with Duchenne Muscular Dystrophy

Song TJ, Lee KA, Kang SW, Cho H, Choi YC

Duchenne muscular dystrophy usually affects males. However, females are also affected in rare instances. Approximately 8% of female Duchenne muscular dystrophy (DMD) carriers are manifesting carriers and have muscle weakness...
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Clinical Usefulness of Molecular Diagnosis in Dystrophin Gene Mutations Using the Multiplex Ligation-dependent Probe Amplification (MLPA) Method

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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The Clinical Features, Immunostaining and Genetic Study in Duchenne/Becker Muscular Dystrophy

Seo CD, Lee YJ, Lee EH, Jeong MH, Yum MS, Ko JM, Yoo HW, Ko TS

  • KMID: 1468159
  • J Korean Child Neurol Soc.
  • 2009 May;17(1):40-49.
PURPOSE: This retrospective study was designed to know the relation between clinical features, genetics, and immunostaining findings among children with Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) and the validity...
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Cognition Associated with Dystrophin Deletion in Duchenne Muscular Dystrophy

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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Molecular and Pathological Diagnosis of Muscular Dystrophies

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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Clinical, Immunohistochemical, and Genetic Analysis in Dystrophinopathy

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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Molecular Genetic Analysis of Dystrophin Gene in Duchenne/Becker Muscular Dystrophy

Park SY, Koh KN, Lim BC, Kang HS, Lee KY, Hwang H, Chae JH, Choi JE, Kim KJ, Hwang YS

  • KMID: 1582214
  • J Korean Child Neurol Soc.
  • 2004 May;12(1):50-58.
PURPOSE: Duchenne/Becker muscular dystrophy(DMD/BMD) is an X-linked recessive disorder caused by mutations of dystrophin genes. The purpose of the present study is to determine the frequency and the patterns of...
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Expression of Caveolin-3 in the Muscle Cell and Tissue

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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Relationship between Utrophin and Regenerating Muscle Fibers in Duchenne Muscular Dystrophy

Shim JY, Kim TS

Duchenne muscular dystrophy (DMD) is a dystrophinopathy, and its associated gene is located on Xp21. Moreover, utrophin, a recently identified structural homologue of dystrophin is reported to be up-regulated in...
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Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients

Chaturvedi LS, Mukherjee , Srivastava S, Mittal RD, Mittal B

  • KMID: 1457538
  • Exp Mol Med.
  • 2001 Dec;33(4):251-256.
Duchenne and Becker muscular dystrophies (D/BMD) are caused by mutations in the dystrophin gene. Two-thirds of patients have large intragenic deletions or duplications and the remaining one-third have point mutations,...
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Diagnosis of Duchenne/Becker Muscular Dystrophy: Clinical and Moleculargenetic Characteristics

Lee JH, Chae JH, Kim KJ, Joo S, Park S, Cho HI, Chi JG, Hwang YS

  • KMID: 2329227
  • J Korean Child Neurol Soc.
  • 2000 Dec;8(2):211-220.
PURPOSE: Duchenne/Becker muscular dystrophy (DMD/BMD) is an X-linked recessive disease caused by the mutation of dystrophin gene. Since the majority of mutations are deletions, recent diagnosis is made by the moleculargenetic tools....
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Pattern of Exon Deletions of Dystrophin Gene in Korean Patients with Duchenne Muscular Dystrophy

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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Alterations of Sarcospan Gene in Congenital Fibrosis Syndrome

Lee SY, Suh SI

  • KMID: 2205689
  • J Korean Ophthalmol Soc.
  • 1999 Dec;40(12):3414-3421.
Congenital fibrosis of the extraocular muscles syndrome [CFEOMS] was genetically related to the region of chromosome 12[p11.2~q12] by linkage analysis. Recently the gene encoding sarcospan, one of transmembrane components of...
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