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A Patient With Late-onset Limb-girdle Muscular Dystrophy Type 2B Mimicking Dermatomyositis: A Case Report and Review

Kim MJ, Oh YJ, Hong YH, Park SH, Oh JS, Kim MJ, Chae JH, Shin K

Limb-Girdle Muscular Dystrophy 2B (LGMD2B) presents with proximal and/or distal muscle weakness and markedly high creatine kinase level. It is caused by the loss of dysferlin due to mutations in...
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Muscle pathology in neuromuscular disorders

Park YE, Shin JH, Kim DS

Muscle pathology findings may guide the diagnosis of neuromuscular disorders since they are helpful for understanding the pathological processes causing muscle weakness and also provide significant clues for the diagnosis...
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Progression of GNE Myopathy Based on the Patient-Reported Outcome

Park YE, Kim DS, Choi YC, Shin JH

BACKGROUND AND PURPOSE: GNE myopathy is a rare progressive myopathy caused by biallelic mutations in the GNE gene, and frequently accompanied by rimmed vacuoles in muscle pathology. The initial symptom...
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Limb-Girdle Muscular Dystrophy

Kim NH, Yoon HS

The limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically determined disorders characterized by progressive weakness and atrophy predominantly impacting the shoulder and pelvic girdles. Their classification has...
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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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Partnership Between Families of Children with Muscular Dystrophy and Health-care Professionals: From Parents' Perspective

Yang BH, Chung CY, Li YS

PURPOSE: At present, there is still controversy between parents of children with muscular dystrophy (MD) and health-care professionals on care issues. Partnerships can connect the affected children and their families...
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FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1

Park HJ, Lee W, Kim SH, Lee JH, Shin HY, Kim SM, Park KD, Lee JH, Choi YC

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array. Recent studies revealed that the FAT1 expression is associated with disease activity of FSHD, and...
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An Experience of Judicial Autopsy for a Death by Muscular Dystrophy: An Autopsy Case

Kim YS, Park JH

Progressive muscular dystrophy (PMD) is a primary muscle disease characterized by progressive muscle weakness and wasting, which is inherited by an X-linked recessive pattern and occurs mainly in males. There...
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Catheter Ablation of Multiple Accessory Pathways in Duchenne Muscular Dystrophy

Finsterer , Stollberger C, Steger C, Gatterer E

A 23-year-old male with Duchenne muscular dystrophy (DMD) experienced self-limiting palpitations at age 19 years for the first time. Palpitations recurred not earlier than at age 23 years, and were...
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The Effect of Enalapril and Carvedilol on Left Ventricular Dysfunction in Middle Childhood and Adolescent Patients With Muscular Dystrophy

Kwon HW, Kwon BS, Kim GB, Chae JH, Park JD, Bae EJ, Noh CI

BACKGROUND AND OBJECTIVES: In Duchenne and Becker muscular dystrophies, cardiac function deteriorates with time resulting in heart failure which is often fatal. We prospectively evaluated the effect of enalapril and...
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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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A Case of Walker-Warburg Syndrome Presented with Seizures

Kim SK, Lee JY, Kim YH, Lee IG

  • KMID: 2176847
  • J Korean Child Neurol Soc.
  • 2010 Nov;18(2):332-337.
Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, brain (lissencephaly, hydrocephalus, cerebellar malformations) and retinal abnormalities, and is associated with mental retardation and seizures....
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Differential Immunohistological Features of Inflammatory Myopathies and Dysferlinopathy

Choi JH, Park YE, Kim SI, Kim JI, Lee CH, Park KH, Kim DS

This study was performed in order to characterize the types of the infiltrating cells, and the expression profiles of major histocompatibility complex (MHC) class I and membrane attack complex (MAC)...
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Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene

Cho HJ, Sung DH, Kim EJ, Yoon CH, Ki CS, Kim JW

Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF...
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Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in Patients with Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 1B

Hong JS, Ki CS, Kim JW, Suh YL, Kim JS, Baek KK, Kim BJ, Ahn KJ, Kim DK

Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy, slowly progressive skeletal myopathy and contractures of the neck, elbows and ankles....
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Clinical and Pathological Characteristics of Four Korean Patients with Limb-Girdle Muscular Dystrophy type 2B

Oh SH, Kang SW, Lee JG, Na SJ, Kim TS, Choi YC

Limb-girdle muscular dystrophy type 2B (LGMD2B), a subtype of autosomal recessive limb-girdle muscular dystrophy (ARLGMD), is characterized by a relatively late onset and slow progressive course. LGMD2B is known to...
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Significance of Immunohistochemical Study in Patients with Muscular Dystrophy

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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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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