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Article

Congenital Myasthenic Syndromes in 2018.

Current neurology and neuroscience reports - 12 Jun 2018

Engel Andrew G

Abstract excerpt

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,...

Topics

Humans
Mutation
Myasthenic Syndromes, Congenital
Neuromuscular Junction

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

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

Genes

ALG14
ALG2
DPAGT1
GFPT1
GMPPB
LAMA5
LRP4
PREPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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