Chapter

Congenital Myasthenic Syndromes

Andrew G. Engel, Xin-Ming Shen, Kinji Ohno and Steven M. Sine

in Myasthenia Gravis and Myasthenic Disorders

Second edition

Published on behalf of © 2012 by Mayo Foundation for Medical Education and Research

Published in print March 2012 | ISBN: 9780199738670
Published online April 2013 | e-ISBN: 9780199322848 | DOI: http://dx.doi.org/10.1093/med/9780199738670.003.0008

Series: Contemporary Neurology Series

Congenital Myasthenic Syndromes

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This chapter covers congenital myasthenic syndromes, including a brief history, mechanisms compromising the safety margin of neuromuscular transmission, the classification and investigation of CMS, presynaptic CMS, synaptic basal-lamina-associated CMS, postsynaptic CMS caused by mutations in AChR, CMS caused by defects in rapsyn, and defects in mechanisms governing endplate development and maintenance.

Chapter.  26832 words.  Illustrated.

Subjects: Neurology

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