Background: Muscular dystrophies are a heterogeneous group of inherited disorders that cannot be diagnosed clinically due to overlapping clinical phenotypes. Whole-exome sequencing is considered as the diagnostic strategy of choice in these cases. In this study we aimed to determine the mutational spectrum of multiplex ligation-dependent probe amplification (MLPA)-negative muscular dystrophy patients in Pakistan using whole-exome sequencing. Subsequently the mutations identified via WES were used to screen additional dystrophinopathy patients by Sanger sequencing.

中文翻译：

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全外显子组测序鉴定巴基斯坦肌营养不良患者的小突变

背景：肌营养不良症是一组异质性遗传疾病，由于临床表型重叠，无法在临床上诊断。在这些情况下，全外显子组测序被认为是首选的诊断策略。在这项研究中，我们旨在使用全外显子组测序确定巴基斯坦多重连接依赖性探针扩增 (MLPA) 阴性肌营养不良患者的突变谱。随后，通过 Sanger 测序，通过 WES 鉴定的突变用于筛选其他肌营养不良症患者。