Myasthenic syndrome, congenital, 1A, slow-channel; CMS1A

Disease ID:1105
Name:Myasthenic syndrome, congenital, 1A, slow-channel; CMS1A
Associated with:1 target
Synonyms
Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes
Database Links
Disease Ontology: DOID:3635
OMIM: 601462
Orphanet: ORPHA98913, ORPHA590

Targets

nicotinic acetylcholine receptor α1 subunit
References:  3-4
Mutations:  nicotinic acetylcholine receptor α1 subunit is associated with 7 mutation. Click here for details

Ligands

No ligand related data available for Myasthenic syndrome, congenital, 1A, slow-channel; CMS1A

References

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1. Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, Newsom-Davis J. (1997) Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. Hum. Mol. Genet., 6 (5): 767-74. [PMID:9158151]

2. Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt 2nd JN, Hutchinson DO, Brengman JM, Bren N et al.. (1996) New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum. Mol. Genet., 5 (9): 1217-27. [PMID:8872460]

3. 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]

4. 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]

5. Milone M, Wang HL, Ohno K, Fukudome T, Pruitt JN, Bren N, Sine SM, Engel AG. (1997) Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. J. Neurosci., 17 (15): 5651-65. [PMID:9221765]

6. Shen XM, Deymeer F, Sine SM, Engel AG. (2006) Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown. Ann. Neurol., 60 (1): 128-36. [PMID:16685696]

7. Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG. (1995) Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron, 15 (1): 229-39. [PMID:7619526]