Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
J Anat. 2014 Jan;224(1):29-35. doi: 10.1111/joa.12034. Epub 2013 Mar 4.
MuSK myasthenia gravis is a rare, severe autoimmune disease of the neuromuscular junction, only identified in 2001, with unclear pathogenic mechanisms. In this review we describe the clinical aspects that distinguish MuSK MG from AChR MG, review what is known about the role of MuSK in the development and function of the neuromuscular junction, and discuss the data that address how the antibodies to MuSK lead to neuromuscular transmission failure.
肌肉特异性激酶重症肌无力是一种罕见的、严重的神经肌肉接头自身免疫性疾病,仅在 2001 年被确认,其发病机制尚不清楚。在这篇综述中,我们描述了 MuSK MG 与 AChR MG 相区别的临床特征,回顾了 MuSK 在神经肌肉接头发育和功能中的作用的已知信息,并讨论了阐明针对 MuSK 的抗体如何导致神经肌肉传递失败的数据。