Myasthenic syndrome, congenital, 3A, slow-channel; CMS3A

Disease ID:1107
Name:Myasthenic syndrome, congenital, 3A, slow-channel; CMS3A
Associated with:1 target
Synonyms
Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes
Database Links
Disease Ontology: DOID:3635
OMIM: 616321
Orphanet: ORPHA590, ORPHA98913

Targets

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

Ligands

No ligand related data available for Myasthenic syndrome, congenital, 3A, slow-channel; CMS3A

References

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1. Engel AG, Ohno K, Sine SM. (2003) Congenital myasthenic syndromes: A diverse array of molecular targets. J. Neurocytol., 32 (5-8): 1017-37. [PMID:15034283]

2. Engel AG, Shen XM, Selcen D, Sine SM. (2010) What have we learned from the congenital myasthenic syndromes. J. Mol. Neurosci., 40 (1-2): 143-53. [PMID:19688192]

3. Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A et al.. (2002) Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann. Neurol., 51 (1): 102-12. [PMID:11782989]