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Congenital Myasthenic Syndromes in 2018

  • Nerve and Muscle (L H Weimer, Section Editor)
  • Published:
Current Neurology and Neuroscience Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

Summarize features of the currently recognized congenital myasthenic syndromes (CMS) with emphasis on novel findings identified in the past 6 years.

Recent Findings

Since the last review of the CMS in this journal in 2012, several novel CMS were identified. The identified disease proteins are SNAP25B, synaptotagmin 2, Munc13-1, synaptobrevin-1, GFPT1, DPAGT1, ALG2, ALG14, Agrin, GMPPB, LRP4, myosin 9A, collagen 13A1, the mitochondrial citrate carrier, PREPL, LAMA5, the vesicular ACh transporter, and the high-affinity presynaptic choline transporter.

Summary

Exome sequencing has provided a powerful tool for identifying novel CMS. Identifying the disease genes is essential for determining optimal therapy. The landscape of the CMS is still unfolding.

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Abbreviations

CMS:

Congenital myasthenic syndrome(s)

EP:

Endplate

EPP:

Endplate potential

MEPP:

Miniature endplate potential

3,4-DAP:

3,4-Diaminopyridine

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Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major Importance

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Acknowledgements

Work done in the authors laboratory was supported by NIH Grant NS6277.

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  1. Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA

    Andrew G. Engel

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Engel, A.G. Congenital Myasthenic Syndromes in 2018. Curr Neurol Neurosci Rep 18, 46 (2018). https://doi.org/10.1007/s11910-018-0852-4

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