The role of muscle-specific tyrosine kinase (MuSK) and mystery of MuSK myasthenia gravis |
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| Authors: | Inga Koneczny Judith Cossins Angela Vincent |
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| Institution: | Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK |
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| Abstract: | 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. |
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| Keywords: | AChR DOK7 IgG4 LRP4 MG muscle-specific tyrosine kinase myasthenia gravis neuromuscular transmission quantal content RAPSN |
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