Carlson Courtney R, Moore Steven A, Mathews Katherine D
University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Muscle Nerve. 2018 Jan 24. doi: 10.1002/mus.26083.
Comprehensive genetic testing for dystrophinopathy can detect ∼95% of pathogenic variants in the dystrophin gene (DMD) and is often the preferred diagnostic approach.
We reviewed pathology reports for muscle biopsies evaluated at the University of Iowa with a pathological diagnosis of dystrophinopathy based on dystrophic histopathology and abnormal immunofluorescence staining: reduced to absent dystrophin, expression of utrophin, and loss of neuronal nitric oxide synthase.
The percentage of muscle biopsies with dystrophinopathy has been stable since 1997. Among 2,298 biopsies evaluated between 2011 and 2016, 72 (3.1%) had pathologic features of dystrophinopathy. Median age at biopsy was 8 years (range, 0.66-84). Half had undergone DMD genetic testing prior to biopsy. Clinical phenotypes recorded on requisitions were typical of muscular dystrophy for 57 (79%) biopsies.
Muscle biopsy continues to play an important role in the diagnosis of dystrophinopathy, particularly in patients with later symptom onset, comorbidities, or normal DMD genetic testing results. Muscle Nerve, 2018.
对肌营养不良症进行全面的基因检测可检测出肌营养不良蛋白基因（DMD）中约95%的致病变异，这通常是首选的诊断方法。
我们回顾了爱荷华大学评估的肌肉活检病理报告，这些活检基于营养不良性组织病理学和异常免疫荧光染色，病理诊断为肌营养不良症：肌营养不良蛋白减少至缺失、抗肌萎缩蛋白表达以及神经元型一氧化氮合酶缺失。
自1997年以来，患有肌营养不良症的肌肉活检比例一直保持稳定。在2011年至2016年评估的2298例活检中，72例（3.1%）具有肌营养不良症的病理特征。活检时的中位年龄为8岁（范围为0.66 - 84岁）。其中一半在活检前接受了DMD基因检测。申请单上记录的临床表型在57例（79%）活检中为典型的肌肉营养不良症。
肌肉活检在肌营养不良症的诊断中继续发挥重要作用，特别是在症状出现较晚、有合并症或DMD基因检测结果正常的患者中。《肌肉与神经》，2018年。
