Neuromuscular Research Center, Departments of Neurology and Biomedicine, University Hospital Basel, Switzerland;
Swiss Med Wkly. 2014 Feb 19;144:w13916. doi: 10.4414/smw.2014.13916.
Muscular dystrophies are classically subdivided according to their clinical phenotype, and were historically defined as progressive myopathies in which muscle biopsies demonstrate muscle fibre necrosis and regeneration, as well as replacement of muscle fibres by adipose and connective tissue. In recent years, great progress has been made in identifying the genetic basis of many myopathies, thereby presenting opportunities to develop therapeutic strategies that act on specific molecular pathomechanisms. The different therapeutic strategies and their molecular targets will be reviewed.
肌肉萎缩症通常根据其临床表型进行分类,历史上被定义为进行性肌病,肌肉活检显示肌肉纤维坏死和再生,以及脂肪和结缔组织取代肌肉纤维。近年来,在确定许多肌病的遗传基础方面取得了重大进展,从而为针对特定分子病理机制的治疗策略的发展提供了机会。本文将对不同的治疗策略及其分子靶点进行综述。