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The increasing understanding of the structural complexity of the neuromuscular junction (NMJ), and the processes that are important in its development, suggests many possible new disease targets. Here, we summarize briefly the genetic and autoimmune disorders that affect neuromuscular transmission, and the identified targets, including new evidence that antibodies to muscle-specific receptor tyrosine kinase (MuSK) are involved in the pathogenesis of acetylcholine receptor (AChR) antibody-negative myasthenia gravis. We then review the development of the NMJ, focusing on the important roles of nerve-derived agrin and MuSK in clustering of AChRs and other essential components of the NMJ.


Journal article


Muscle Nerve

Publication Date





4 - 16


Agrin, Animals, Autoimmune Diseases, Genetic Diseases, Inborn, Humans, Neuromuscular Diseases, Neuromuscular Junction, Receptor Protein-Tyrosine Kinases, Receptors, Cholinergic