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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.

Original publication

DOI

10.1111/joa.12034

Type

Journal article

Journal

J Anat

Publication Date

01/2014

Volume

224

Pages

29 - 35

Keywords

AChR, DOK7, IgG4, LRP4, MG, RAPSN, muscle-specific tyrosine kinase, myasthenia gravis, neuromuscular transmission, quantal content, Autoantibodies, Humans, Myasthenia Gravis, Neuromuscular Junction, Receptor Protein-Tyrosine Kinases, Receptors, Cholinergic