Congenital Myasthenic Syndromes in 2018

doi:10.1007/s11910-018-0852-4

Review

. 2018 Jun 12;18(8):46.

doi: 10.1007/s11910-018-0852-4.

Congenital Myasthenic Syndromes in 2018

Andrew G Engel¹

Affiliations

PMID: 29892917
DOI: 10.1007/s11910-018-0852-4

Review

Congenital Myasthenic Syndromes in 2018

Andrew G Engel. Curr Neurol Neurosci Rep. 2018.

. 2018 Jun 12;18(8):46.

doi: 10.1007/s11910-018-0852-4.

Author

Andrew G Engel¹

Affiliation

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

PMID: 29892917
DOI: 10.1007/s11910-018-0852-4

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. 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.

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Congenital Myasthenic Syndromes in 2018

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