Duchenne muscular dystrophy was a well‐established medical and genetic enigma by the 1970s. Why was the new mutation rate so high in all world populations? Why were affected boys doing well in early childhood, but then showed relentless progression of muscle wasting? What was wrong with the muscle? The identification of the first fragments of DMD gene cDNA in 1986, prediction of the entire 3685 amino acid protein sequence, and production of antibodies to dystrophin, both in 1987, provided key tools to understand DMD genetics and molecular pathology. The identification of dystrophin nucleated extensive research on myofiber membrane cytoskeleton, membrane repair, muscle regeneration, and failure of regeneration. This in turn led to molecular therapeutics based on understanding of dystrophin structure and function. This historical perspective describes the events surrounding the initial identification of the dystrophin protein.

中文翻译：

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肌营养不良蛋白（Duchenne肌营养不良基因的蛋白质产物）的发现。

到1970年代，杜兴肌营养不良症已成为公认的医学和遗传学难题。为什么新突变率在全世界所有人口中都那么高？为什么受影响的男孩在儿童早期表现良好，但随后却表现出无休止的肌肉消瘦？肌肉出了什么问题？DMD最初片段的鉴定1986年，该基因cDNA预测了整个3685个氨基酸的蛋白序列，并在1987年产生了抗肌营养不良蛋白的抗体，这为理解DMD遗传学和分子病理学提供了关键工具。肌营养不良蛋白的鉴定对肌纤维膜细胞骨架，膜修复，肌肉再生和再生失败进行了广泛的研究。反过来，这导致了基于对肌营养不良蛋白结构和功能的了解的分子疗法。这种历史观点描述了肌营养不良蛋白最初鉴定的事件。