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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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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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A Patient with Genetically Confirmed Myoclonus-Dystonia Responded to Anticholinergic Treatment and Improved Spontaneously

Lee JH, Lyoo CH, Lee MS

BACKGROUND: The various medical treatments applied to myoclonus-dystonia patients with a mutation of the epsilon-sarcoglycan gene (SGCE) have not been beneficial in most cases. Most patients experience progressive deterioration or...
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