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A Novel, Blood-Based Diagnostic Assay for Limb Girdle Muscular Dystrophy 2B and Miyoshi Myopathy
Ann Neurol 51:129-133, Ho,M.,et al, 2002
See this aricle in Pubmed

Article Abstract
We have developed a new diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy, which screens for dysferlin expression in blood using a commercially available monoclonal antibody. In our analysis of 12 patients with lim b girdle muscular dystrophy 2B or Miyoshi myopathy, the findings obtained using the new assay are fully consistent with the results from muscle immunodiagnosis.
 
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dysferlin
muscular dystrophy
muscular dystrophy,distal,Miyoshi
muscular dystrophy,limb-girdle
myopathy
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