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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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Progressive Muscular Dystrophy

Ko KW, Chi JG

  • KMID: 1698884
  • J Korean Pediatr Soc.
  • 1984 Jul;27(7):738-740.
No abstract available.
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Progressive Muscular Dystrophy: A Case Report

Jahng JS, Hwang SK, Han DY

Progressive Muscular Dystrophy is a hereditary disorder characterized by progressive weakness and wasting of muscules. The etiology of muscular dystrophy is unknown, and no from of pharmacological treatment is considered...
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Two Cases of Oculopharyngeal Muscular Dystrophy in One Family

Suh MW, Lee KH, Rho JK, Myong HJ

  • KMID: 2044096
  • J Korean Neurol Assoc.
  • 1984 Dec;2(2):208-216.
The authors encountered 2 siblings who showed progressive ophthalmoplegia and bulbar palsy. The patients were studied with various laboratory aids and thought to be as oculopharyngeal muscular dystrophy. The oculopharyngeal...
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Prediction of carrier status in Duchanne muscular dystrophy by serum enzyme measurement

Moon JH, Ahn SH

  • KMID: 1688133
  • J Korean Acad Rehabil Med.
  • 1991 Dec;15(4):423-430.
No abstract available.
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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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Diagnostic Significance of Immunohistochemical Staining in Muscular Dystrophy

Kim DS

  • KMID: 1957670
  • J Korean Neurol Assoc.
  • 2006 Feb;24(1):1-13.
Muscular dystrophy (MD) is a heterogeneous group of inherited muscle disorders caused by the mutations of different genes encoding muscle proteins, and it is now classified according to the results...
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Duchenne Type Muscular Dystrophy Occuring in 2 Brothers

Lee BS, Lee JK, Ra CS

  • KMID: 1668339
  • J Korean Pediatr Soc.
  • 1981 Mar;24(3):271-274.
No abstract available.
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4 Cases of Progressive Muscular Dystrophy

Kim JH, Kim DW, Ahn DD, Lee JK, Kim YJ

  • KMID: 1676444
  • J Korean Pediatr Soc.
  • 1985 Dec;28(12):1225-1230.
No abstract available.
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Intellectual impairement in patients with muscular dystrophy

Sohn MK, Moon JH, Park DS, Kang MJ, Ha YR

  • KMID: 1688000
  • J Korean Acad Rehabil Med.
  • 1991 Mar;15(1):71-76.
No abstract available.
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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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A Case of Progressive Muscular Dystrophy ( Duchenne type )

Shin KK, Chung PR, Bai SK, Kim JS

  • KMID: 2208759
  • J Korean Pediatr Soc.
  • 1977 Jul;20(7):545-548.
The authors have experienced a case of Duchenne type of progressive muscular dystrophy in a 9 year old boy who was presented with significantly increased serum enzymes related to this...
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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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Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy

Kim D, Kim YM, Seo GH, Kim GH, Yoo HW, Yum MS, Ko TS, Lee BH

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a...
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Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture

Lee Y, Lee JH, Park HJ, Choi YC

BACKGROUND AND PURPOSE: The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later...
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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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Multiple Pilomatricomas Associated with Myotonic Muscular Dystrophy in Brother and Sister

Yoo DO, Kang JD, Kim SJ, Park SD

  • KMID: 2303068
  • Korean J Dermatol.
  • 2002 Nov;40(11):1419-1422.
Pilomatricoma is a tumor with differentiation toward hair cortex cells. There have been a few cases of multiple familial pilomatricomas in association with myotonic muscular dystrophy. We report two members...
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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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Duchenne Type Muscular Dystrophy Occuring in 3 Brothers

Moon YC, Kim HJ, Kim KC

  • KMID: 2208758
  • J Korean Pediatr Soc.
  • 1977 Jul;20(7):540-544.
We were experienced Duchenne type muscular dystrophy occuring in 3 brothers among 6 siblings. In all cases, the clinical symtoms were started at about 6 years old age, And diagnosis...
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Duchenne Type Muscular Dystrophy: Report of 8 Cases

Hwang BY

Clinical review has been made for 8 cases of Duchenne muscular dystrophy admitted to orthopedic Department during the time between 1964 and 1969. Duchenne type muscular dystrophy, (Duchenne, 1849), is...
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