Department of Physiology, Faculty of Medicine, University of Debrecen, H-4002 Debrecen, Hungary.
Int J Mol Sci. 2020 Nov 25;21(23):8935. doi: 10.3390/ijms21238935.
Muscular dystrophies are a group of more than 160 different human neuromuscular disorders characterized by a progressive deterioration of muscle mass and strength. The causes, symptoms, age of onset, severity, and progression vary depending on the exact time point of diagnosis and the entity. Congenital myopathies are rare muscle diseases mostly present at birth that result from genetic defects. There are no known cures for congenital myopathies; however, recent advances in gene therapy are promising tools in providing treatment. This review gives an overview of the mouse models used to investigate the most common muscular dystrophies and congenital myopathies with emphasis on their potentials and limitations in respect to human applications.
肌肉疾病是一组超过 160 种不同的人类神经肌肉疾病,其特征是肌肉质量和力量逐渐恶化。病因、症状、发病年龄、严重程度和进展情况因确切的诊断时间点和具体疾病而异。先天性肌病是一种罕见的肌肉疾病,大多在出生时就存在,是由遗传缺陷引起的。目前还没有治疗先天性肌病的方法;然而,基因治疗的最新进展是提供治疗的有前途的工具。这篇综述概述了用于研究最常见的肌肉疾病和先天性肌病的小鼠模型,重点介绍了它们在人类应用方面的潜力和局限性。