Serdaroglu A, Kotiloglu E, Caglar M, Topaloglu H
Pediatric Neurology Department, Gazi University Medical School, Ankara, Turkey.
Pediatr Pathol Lab Med. 1996 May-Jun;16(3):393-402.
Immunohistochemical examination of dystrophin is suggested as a useful method for diagnosing Duchenne carriers for genetic counseling, in the absence of an index case. This study included 17 females with an age range of 6 to 17 (mean 11.97 +/- 3.81) years and without a family history of Duchenne muscular dystrophy but with varying symptoms of muscle disease, high creatine kinase concentrations, myopathic muscle biopsies, and normal karyotype. Clinical severity was scored according to neurological findings. Muscle ultrasonography, cardiac evaluation, and pathologic examination were done. Dystrophinopathy was detected in six cases (35.3%). All of these cases included 8-33% partially dystrophin-deficient fibers and four of them also had 2-23% deficient fibers. Three cases revealed a mosaic pattern of dystrophin staining. Neither age nor clinical findings correlated with dystrophinopathy; creatine kinase concentrations correlated significantly, however.
在无先证者的情况下，免疫组化检测肌营养不良蛋白被认为是一种用于诊断杜氏肌营养不良症携带者以进行遗传咨询的有用方法。本研究纳入了17名女性，年龄在6至17岁（平均11.97±3.81岁）之间，无杜氏肌营养不良症家族史，但有不同程度的肌肉疾病症状、高肌酸激酶浓度、肌病性肌肉活检及正常核型。根据神经学检查结果对临床严重程度进行评分。进行了肌肉超声检查、心脏评估和病理检查。在6例（35.3%）中检测到肌营养不良蛋白病。所有这些病例均包括8 - 33%的部分肌营养不良蛋白缺陷纤维，其中4例还存在2 - 23%的缺陷纤维。3例显示肌营养不良蛋白染色呈嵌合模式。年龄和临床检查结果均与肌营养不良蛋白病无关；然而，肌酸激酶浓度与之显著相关。
