Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; CMS2C

Disease ID:1112
Name:Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; CMS2C
Associated with:1 target
Synonyms
Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes
Database Links
Disease Ontology: DOID:3635
OMIM: 616314
Orphanet: ORPHA98913, ORPHA590

Targets

nicotinic acetylcholine receptor β1 subunit
References:  1-2
Mutations:  nicotinic acetylcholine receptor β1 subunit is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; CMS2C

References

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1. Engel AG, Ohno K, Sine SM. (2003) Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat. Rev. Neurosci., 4 (5): 339-52. [PMID:12728262]

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. Quiram PA, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG. (1999) Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. J. Clin. Invest., 104 (10): 1403-10. [PMID:10562302]