Reardon W, Harper P S
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
Curr Opin Neurol Neurosurg. 1992 Oct;5(5):605-9.
The recent identification of the gene responsible for myotonic dystrophy and the recognition of an expanding unstable repeat sequence as the specific molecular defect, have resulted in rapid changes in clinical practice as well as in our understanding of the disorder. Against such a framework, this review traces the evolution of clinical and genetic knowledge of the disorder and emphasizes the continuing central role of thorough clinical investigation of those at risk for carrying the gene as an essential element of predictive testing for myotonic dystrophy.
最近对导致强直性肌营养不良的基因的鉴定以及对一种不断扩展的不稳定重复序列作为特定分子缺陷的认识，已使临床实践以及我们对该疾病的理解发生了迅速变化。在此框架下，本综述追溯了该疾病临床和遗传学知识的演变，并强调对携带该基因风险人群进行全面临床调查作为强直性肌营养不良预测性检测的重要组成部分所持续发挥的核心作用。
