Congenital Myasthenic Syndromes in 2018

Curr Neurol Neurosci Rep. 2018 Jun 12;18(8):46. doi: 10.1007/s11910-018-0852-4.


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. 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.

Keywords: Congenital myasthenic syndromes; EMG; Expression studies; Mutation analysis; Neuromuscular junction.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Humans
  • Mutation / genetics*
  • Myasthenic Syndromes, Congenital / classification
  • Myasthenic Syndromes, Congenital / diagnosis
  • Myasthenic Syndromes, Congenital / genetics*
  • Myasthenic Syndromes, Congenital / physiopathology*
  • Neuromuscular Junction / physiopathology*