Mukherjee Monisha, Mittal Balraj
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, India.
Indian J Pediatr. 2004 Feb;71(2):161-8. doi: 10.1007/BF02723101.
Muscular dystrophies are a heterogeneous group of inherited disorders characterized by progressive muscle wasting and weakness. Majority of genes and their protein products responsible for the dystrophies have been identified in recent years. Using molecular studies, now it is possible to establish a precise diagnosis, provide prognosis, detect preclinical cases, identify carriers, and offer prenatal diagnostic testing. Molecular genetic approaches also seem to offer the best prospect for developing effective treatments in the future.
肌肉萎缩症是一组遗传性疾病，其特征为进行性肌肉萎缩和无力。近年来，导致这些萎缩症的大多数基因及其蛋白质产物已被确定。通过分子研究，现在可以进行精确诊断、提供预后评估、检测临床前病例、识别携带者并提供产前诊断检测。分子遗传学方法似乎也为未来开发有效治疗方法提供了最佳前景。
