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A familial case of limb-girdle muscular dystrophy with CAV3 mutation

Lee S, Jang S, Shim Y, Kim WJ, Kim SY, Cho A, Kim H, Kim JI, Lim BC, Hwang H, Choi J, Kim KJ, Chae JH

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD...
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Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects

Suh MR, Lee KA, Kim EY, Jung J, Choi WA, Kang SW

PURPOSE: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are similar genetic disorders whose patterns of mutation and disease phenotypes might be expected to show differences among different countries....
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Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort

Vengalil S, Preethish-Kumar V, Polavarapu K, Mahadevappa M, Sekar D, Purushottam M, Thomas PT, Nashi S, Nalini A

BACKGROUND AND PURPOSE: Studies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA) have determined the clinical characteristics, genotype, and...
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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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Novel Non-contiguous Duplications in the DMD Gene in Five Patients with Duchenne Muscular Dystrophy

Rim JH, Cho SM, Yu N, Lee KA

BACKGROUND: Muscular dystrophy is an X-linked recessive disorder caused by mutations in the DMD gene. Muscular dystrophy is classified into 2 types; Duchenne muscular dystrophy (DMD), which has severe clinical...
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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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Gene Therapy of Inherited Muscle Diseases

Shin JH

  • KMID: 1492122
  • J Korean Soc Clin Neurophysiol.
  • 2012 Dec;14(2):53-58.
For the last decades, molecular genetics has achieved great advances that the genes on the list of inherited muscle diseases are piling up. Those diseases of overlapping clinico-pathologic findings are...
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Treatment of Duchenne Muscular Dystrophy: A Comprehensive Review

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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A case of Becker muscular dystrophy with early manifestation of cardiomyopathy

Doo KH, Ryu HW, Kim SS, Lim BC, Hwang H, Kim KJ, Hwang YS, Chae JH

An 18-year-old boy was admitted with chest discomfort, nausea, and dyspnea at rest. At the age of 3 years, he underwent muscle biopsy and dystrophin gene analysis owing to an...
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Genetic Analysis of Dystrophin Gene for Affected Male and Female Carriers with Duchenne/Becker Muscular Dystrophy in Korea

Lee BL, Nam SH, Lee JH, Ki CS, Lee M, Lee J

Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We analyzed the results of a genetic test in 29 DMD/BMD patients, their six...
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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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Carrier Woman of Duchenne Muscular Dystrophy Mimicking Inflammatory Myositis

Yoon J, Kim SH, Ki CS, Kwon MJ, Lim MJ, Kwon SR, Joo K, Moon CG, Park W

Carrier woman of Duchenne muscular dystrophy (DMD) can mimic the inflammatory myositis in presenting symptoms. Two diseases should be differentiated by the clinical history, muscle biopsy and genetic study. There...
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Gene Therapy for Muscular Dystrophies: Progress and Challenges

Park KS, Oh D

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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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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Complete Atrioventricular Block in Duchenne Muscular Dystrophy : A case report

Baek JH, Kang SW, Park JH, Choi SH

  • KMID: 2325480
  • J Korean Acad Rehabil Med.
  • 2009 Aug;33(4):483-485.
Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder characterized by rapid progression of muscle wasting and weakness. The disorder is caused by a mutation in the dystrophin gene...
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Association Analysis of Polymorphisms on Dystrobrevin Binding Protein 1 (DTNBP1) Gene with Schizophrenia in the Korean Population

Moon HI, Lee YJ, Park BL, Shin HD, Choi IG, Han SH, Woo SI

  • KMID: 2090054
  • Korean J Biol Psychiatry.
  • 2009 Aug;16(3):149-158.
OBJECTIVES: This study was designed to investigate the association of schizophrenia and P1320, P1325, P1635, P1655, P1763 and SNP A polymorphisms on dystrobrevin binding protein 1(DTNBP1) gene in Korean patients. METHODS:...
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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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Evaluation of Multiplex PCR Assay Using Dual Priming Oligonucleotide System for Detection Mutation in the Duchenne Muscular Dystrophy Gene

Park Y, Kim J, Choi JR, Song J, Chung JS, Lee KA

BACKGROUND: Exon deletions of Duchenne muscular dystrophy (DMD) gene account for most of the alterations found in DMD and Becker muscular dystrophy (BMD). This study was to evaluate the usefulness...
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