Lim L E, Campbell K P
Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City 52242, USA.
Curr Opin Neurol. 1998 Oct;11(5):443-52. doi: 10.1097/00019052-199810000-00006.
The involvement of the sarcoglycan complex in the pathogenesis of muscular dystrophy is becoming increasingly clear. Sarcoglycan gene mutations lead to four forms of autosomal recessive limb-girdle muscular dystrophy. Recent progress has been made with the identification of novel mutations and their correlations with disease. Through this research, a better understanding the molecular pathogenesis of limb-girdle muscular dystrophy has been gained. Finally, animal models are now being used to study viral-mediated gene transfer for the future treatment of this disease.
肌聚糖复合体在肌肉萎缩症发病机制中的作用日益明晰。肌聚糖基因突变导致四种常染色体隐性遗传性肢带型肌营养不良症。在新型突变的识别及其与疾病的关联方面已取得了最新进展。通过这项研究,对肢带型肌营养不良症的分子发病机制有了更深入的了解。最后,动物模型正被用于研究病毒介导的基因转移,以期未来用于治疗这种疾病。