Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; CMS3C

Disease ID:1113
Name:Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; CMS3C
Associated with:1 target
Synonyms
Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes
Database Links
Disease Ontology: DOID:3635
OMIM: 616323
Orphanet: ORPHA590, ORPHA98913

Targets

nicotinic acetylcholine receptor δ subunit
Comments:  Compound heterozygosity was found for the missense and deletion mutations listed below.
References:  1-3
Mutations:  nicotinic acetylcholine receptor δ subunit is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; CMS3C

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. Engel AG, Sine SM. (2005) Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol, 5 (3): 308-21. [PMID:15907919]

4. Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmüller H et al.. (2006) CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. Brain, 129 (Pt 10): 2784-93. [PMID:16916845]