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Myasthenia gravis and related disorders: Pathology and molecular pathogenesis.

Abstract
Disorders affecting the presynaptic, synaptic, and postsynaptic portions of the neuromuscular junction arise from various mechanisms in children and adults, including acquired autoimmune or toxic processes as well as genetic mutations. Disorders include autoimmune myasthenia gravis associated with acetylcholine receptor, muscle specific kinase or Lrp4 antibodies, Lambert-Eaton myasthenic syndrome, nerve terminal hyperexcitability syndromes, Guillain Barré syndrome, botulism, organophosphate poisoning and a number of congenital myasthenic syndromes. This review focuses on the various molecular and pathophysiological mechanisms of these disorders, characterization of which has been crucial to the development of treatment strategies specific for each pathogenic mechanism. In the future, further understanding of the underlying processes may lead to more effective and targeted therapies of these disorders. This article is part of a Special Issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis.
AuthorsJames C Ha, David P Richman
JournalBiochimica et biophysica acta (Biochim Biophys Acta) Vol. 1852 Issue 4 Pg. 651-7 (Apr 2015) ISSN: 0006-3002 [Print] Netherlands
PMID25486268 (Publication Type: Journal Article, Review)
CopyrightCopyright © 2014 Elsevier B.V. All rights reserved.
Chemical References
  • Autoantibodies
  • LDL-Receptor Related Proteins
  • LRP4 protein, human
  • Receptors, Cholinergic
Topics
  • Adolescent
  • Adult
  • Autoantibodies (immunology, metabolism)
  • Botulism (genetics, immunology, metabolism, pathology)
  • Child
  • Child, Preschool
  • Guillain-Barre Syndrome (genetics, immunology, metabolism, pathology)
  • Humans
  • LDL-Receptor Related Proteins (genetics, immunology, metabolism)
  • Lambert-Eaton Myasthenic Syndrome (genetics, immunology, metabolism, pathology)
  • Myasthenia Gravis (genetics, immunology, metabolism, pathology)
  • Neuromuscular Junction (genetics, immunology, metabolism, pathology)
  • Organophosphate Poisoning (genetics, immunology, metabolism, pathology)
  • Receptors, Cholinergic (genetics, immunology, metabolism)

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