A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy
A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy
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DOI：
10.1002/ana.10080
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发表时间：
2002-01-01
影响因子：
11.2
通讯作者：
Brown, RH
中科院分区：
文献类型：
--
作者：
Ho, MF;Gallardo, E;Brown, RH
最近发现肢带肌营养不良症213和Miyoshi肌病是由dysferlin基因缺陷引起的等位基因疾病。我们已经开发了一种新的肢带型肌营养不良症2B和Miyoshi肌病的诊断方法，该方法使用市售的单克隆抗体筛选血液中的dysferlin表达。与目前需要肌肉活检进行免疫诊断的方法不同，新方法简单，并且需要显著降低组织取样的侵入性。此外，它克服了与肌肉样本的处理和储存相关的一些问题。在我们对12例肢带型肌营养不良症213或Miyoshi肌病患者的分析中，使用新的检测方法获得的结果与肌肉免疫诊断的结果完全一致。
Limb girdle muscular dystrophy 213 and Miyoshi myopathy were recently found to be allelic disorders arising from defects in the dysferlin gene. 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. Unlike current methods that require muscle biopsy for immunodiagnosis, the new method is simple and entails a significantly less invasive procedure for tissue sampling. Moreover, it overcomes some of the problems associated with the handling and storage of muscle specimens. In our analysis of 12 patients with limb girdle muscular dystrophy 213 or Miyoshi myopathy, the findings obtained using the new assay are fully consistent with the results from muscle immunodiagnosis.