Lambert-Eaton myasthenic syndrome

Summary
Synonym
  • Eaton-Lambert syndrome
  • LEMS
  • Lambert-Eaton syndrome
Definition
A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
Super Class
autoimmune disease of musculoskeletal system autoimmune disease of peripheral nervous system neuromuscular junction disease
Disease Ontology
DOID:0050214
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
774 CACNA1B calcium voltage-gated channel subunit alpha1 B
1128 CHRM1 cholinergic receptor muscarinic 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
12286 Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025