Congenital Myasthenic Syndromes in 2018

Research output: Contribution to journalReview articlepeer-review

23 Scopus citations

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.

Original languageEnglish (US)
Article number46
JournalCurrent neurology and neuroscience reports
Volume18
Issue number8
DOIs
StatePublished - Aug 1 2017

Keywords

  • Congenital myasthenic syndromes
  • EMG
  • Expression studies
  • Mutation analysis
  • Neuromuscular junction

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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