Bushby K M
Department of Human Genetics, Newcastle upon Tyne, UK.
Hum Mol Genet. 1999;8(10):1875-82. doi: 10.1093/hmg/8.10.1875.
In the field of muscular dystrophy, advances in understanding the molecular basis of the various disorders in this group have been rapidly translated into readily applicable diagnostic tests, allowing the provision of more accurate prognostic and genetic counselling. The limb-girdle muscular dystrophies (LGMD) have recently undergone a major reclassification according to their genetic basis. Currently 13 different types can be recognized. Amongst this group, increasing diversity of the mechanisms involved in producing a muscular dystrophy phenotype is emerging. Recent insights into the involvement of the dystrophin glycoprotein complex in muscular dystrophy suggests that its members may play distinct or even multiple roles in the maintenance of muscle fibre integrity. In other forms of LGMD, proteins have been implicated which may be important in intracellular signalling, vesicle trafficking or the control of transcription. As these various mechanisms are more fully elucidated, further insights will be gained into the pathophysiology of muscular dystrophy. At a practical level, despite the marked heterogeneity of this group real progress can at last be made in determining a precise diagnosis.
在肌肉萎缩症领域，对于该组各种疾病分子基础的认识进展已迅速转化为易于应用的诊断测试，从而能够提供更准确的预后和遗传咨询。肢带型肌营养不良症（LGMD）最近根据其遗传基础进行了重大重新分类。目前可识别出13种不同类型。在这一组疾病中，产生肌营养不良症表型所涉及的机制越来越多样化。最近对肌营养不良蛋白糖蛋白复合物参与肌肉萎缩症的深入了解表明，其成员可能在维持肌纤维完整性方面发挥不同甚至多种作用。在其他形式的LGMD中，已发现一些蛋白质可能在细胞内信号传导、囊泡运输或转录控制中起重要作用。随着这些各种机制得到更充分的阐明，将对肌肉萎缩症的病理生理学有进一步的认识。在实际层面上，尽管该组疾病具有明显的异质性，但在确定精确诊断方面终于可以取得实际进展。
