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Article

Current status of the congenital myasthenic syndromes.

Neuromuscular disorders : NMD - 1 Feb 2012

Engel Andrew G

Abstract excerpt

Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electrophysiologic, and morphologic studies have paved the way for detecting CMS-related mutations in proteins residing in the nerve terminal, the synaptic basal lamina, and in the postsynaptic region of the motor endplate. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22104196
DOI: 10.1016/j.nmd.2011.10.009
PMCID: PMC3269564

Genes

GFPT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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