Congenital Myasthenic Syndromes in 2018

Andrew G. Engel

doi:10.1007/s11910-018-0852-4

Congenital Myasthenic Syndromes in 2018

Andrew G. Engel

Neurology

Research output: Contribution to journal › Review article › peer-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 language	English (US)
Article number	46
Journal	Current neurology and neuroscience reports
Volume	18
Issue number	8
DOIs	https://doi.org/10.1007/s11910-018-0852-4
State	Published - 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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10.1007/s11910-018-0852-4

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