Pogue R, Anderson L V, Pyle A, Sewry C, Pollitt C, Johnson M A, Davison K, Moss J A, Mercuri E, Muntoni F, Bushby K M
Department of Neurobiology, University Medical School, Framlington Place, NE2 4HH, Newcastle-upon-Tyne, UK.
Neuromuscul Disord. 2001 Jan;11(1):80-7. doi: 10.1016/s0960-8966(00)00154-1.
We describe a strategy for molecular diagnosis in the autosomal recessive limb-girdle muscular dystrophies, a highly heterogeneous group of inherited muscle-wasting diseases. Genetic mutation analysis is directed by immunoanalysis of muscle biopsies using antibodies against a panel of muscular dystrophy-associated proteins. Performing the molecular analysis in this way greatly increases the chance that mutations will be found in the first gene examined. The use of this strategy can significantly decrease the time involved in determining the genetic fault in a patient with a clinical diagnosis of recessive limb-girdle muscular dystrophy, as well as having a feedback effect, which is useful in helping clinicians to identify subtle clinical differences between the subtypes of the disease. The use of this approach has so far helped us to identify mutations in ten sarcoglycanopathy (limb-girdle muscular dystrophy 2C-2F) patients, and seven calpainopathy (limb-girdle muscular dystrophy 2A) patients.
我们描述了一种用于常染色体隐性肢带型肌营养不良症分子诊断的策略，这是一组高度异质性的遗传性肌肉萎缩疾病。基因突变分析通过使用针对一组肌营养不良相关蛋白的抗体对肌肉活检进行免疫分析来指导。以这种方式进行分子分析大大增加了在第一个检测基因中发现突变的机会。使用这种策略可以显著减少确定临床诊断为隐性肢带型肌营养不良症患者遗传缺陷所涉及的时间，同时还具有反馈作用，有助于临床医生识别该疾病各亚型之间细微的临床差异。到目前为止，使用这种方法已帮助我们在10例肌糖蛋白病（肢带型肌营养不良症2C - 2F型）患者和7例钙蛋白酶病（肢带型肌营养不良症2A型）患者中鉴定出突变。
