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Review
. 2007 Jul;26(1):5-10.

The emerging diversity of neuromuscular junction disorders

J Newsom-Davis  1
Affiliations
Review

The emerging diversity of neuromuscular junction disorders

J Newsom-Davis. Acta Myol. 2007 Jul.

Abstract

Research advances over the last 30 years have shown that key transmembrane proteins at the neuromuscular junction are vulnerable to antibody-mediated autoimmune attack These targets are acetylcholine receptors (AChRs) and muscle specific kinase (MuSK) in myasthenia gravis, voltage-gated calcium channels (VGCCs) in the Lambert-Eaton myasthenic syndrome (LEMS), and voltage-gated potassium channels (VGKCs) in neuromyotonia. In parallel with these immunological advances, mutations identified in genes encoding pre-synaptic, synaptic and postsynaptic proteins that are crucial to neuromuscular transmission have revealed a similar diversity of congenital myasthenic syndromes (CMS). These discoveries have had a major impact on diagnosis and management.

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Figures

Figure 1
Figure 1
Myasthenia gravis (1977).
Figure 2
Figure 2
Lambert-Eaton Myasthenic Syndrome: IgG antibodies cause P/Q type VGCC loss.
Figure 3
Figure 3
The Neuromuscular Junction 2007 and beyond.
See this image and copyright information in PMC

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