The role of muscle-specific tyrosine kinase (MuSK) and mystery of MuSK myasthenia gravis

J Anat. 2014 Jan;224(1):29-35. doi: 10.1111/joa.12034. Epub 2013 Mar 4.

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.

Keywords: AChR; DOK7; IgG4; LRP4; MG; RAPSN; muscle-specific tyrosine kinase; myasthenia gravis; neuromuscular transmission; quantal content.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Autoantibodies / physiology
  • Humans
  • Myasthenia Gravis / immunology
  • Myasthenia Gravis / physiopathology*
  • Neuromuscular Junction / immunology
  • Neuromuscular Junction / physiology
  • Receptor Protein-Tyrosine Kinases / immunology
  • Receptor Protein-Tyrosine Kinases / physiology*
  • Receptors, Cholinergic / immunology
  • Receptors, Cholinergic / physiology*

Substances

  • Autoantibodies
  • Receptors, Cholinergic
  • MUSK protein, human
  • Receptor Protein-Tyrosine Kinases