Myasthenic syndrome, congenital, 4A, slow-channel; CMS4A

Disease ID:1108
Name:Myasthenic syndrome, congenital, 4A, slow-channel; CMS4A
Associated with:1 target
Synonyms
Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes
Database Links
Disease Ontology: DOID:3635
OMIM: 605809
Orphanet: ORPHA590, ORPHA98913

Targets

nicotinic acetylcholine receptor ε subunit
References:  3-5
Mutations:  nicotinic acetylcholine receptor ε subunit is associated with 5 mutation. Click here for details

Ligands

No ligand related data available for Myasthenic syndrome, congenital, 4A, slow-channel; CMS4A

References

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1. Croxen R, Hatton C, Shelley C, Brydson M, Chauplannaz G, Oosterhuis H, Vincent A, Newsom-Davis J, Colquhoun D, Beeson D. (2002) Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. Neurology, 59 (2): 162-8. [PMID:12141316]

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) Congenital myasthenic syndromes: A diverse array of molecular targets. J. Neurocytol., 32 (5-8): 1017-37. [PMID:15034283]

4. 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]

5. 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]

6. Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM, Engel AG. (1995) Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc. Natl. Acad. Sci. U.S.A., 92 (3): 758-62. [PMID:7531341]