Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency; CMS4C

Disease ID:1114
Name:Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency; CMS4C
Associated with:1 target
Synonyms
Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes
Database Links
Disease Ontology: DOID:3635
OMIM: 608931
Orphanet: ORPHA98913, ORPHA590

Targets

nicotinic acetylcholine receptor ε subunit
References:  1
Mutations:  nicotinic acetylcholine receptor ε subunit is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency; CMS4C

References

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1. Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC. (1996) End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. Ann. Neurol., 40 (5): 810-7. [PMID:8957026]