Myasthenic syndrome, congenital, 1B, fast-channel; CMS1B

Disease ID:1109
Name:Myasthenic syndrome, congenital, 1B, fast-channel; CMS1B
Associated with:1 target
Synonyms
Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes
Database Links
Disease Ontology: DOID:3635
OMIM: 608930
Orphanet: ORPHA98913, ORPHA590

Targets

nicotinic acetylcholine receptor α1 subunit
References:  1-2
Mutations:  nicotinic acetylcholine receptor α1 subunit is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Myasthenic syndrome, congenital, 1B, fast-channel; CMS1B

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. Wang HL, Milone M, Ohno K, Shen XM, Tsujino A, Batocchi AP, Tonali P, Brengman J, Engel AG, Sine SM. (1999) Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Nat. Neurosci., 2 (3): 226-33. [PMID:10195214]