Myasthenic syndrome, congenital, 4B, fast-channel; CMS4B

Disease ID:1111
Name:Myasthenic syndrome, congenital, 4B, fast-channel; CMS4B
Associated with:1 target
Synonyms
Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes
Database Links
Disease Ontology: DOID:3635
OMIM: 616324
Orphanet: ORPHA590, ORPHA98913

Targets

nicotinic acetylcholine receptor ε subunit
Role:  A number of frameshift mutations in CHRNE associated with CMS4B are described in Engel et al., 2003.
References:  1-3
Mutations:  nicotinic acetylcholine receptor ε subunit is associated with 3 mutation. Click here for details

Ligands

No ligand related data available for Myasthenic syndrome, congenital, 4B, fast-channel; CMS4B

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

3. 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]

4. Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG. (1996) Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron, 17 (1): 157-70. [PMID:8755487]

5. Shen XM, Brengman JM, Edvardson S, Sine SM, Engel AG. (2012) Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. Neurology, 79 (5): 449-54. [PMID:22592360]

6. Wang HL, Ohno K, Milone M, Brengman JM, Evoli A, Batocchi AP, Middleton LT, Christodoulou K, Engel AG, Sine SM. (2000) Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. J. Gen. Physiol., 116 (3): 449-62. [PMID:10962020]