Myasthenic syndrome, congenital, 3B, fast-channel; CMS3B

Disease ID:1110
Name:Myasthenic syndrome, congenital, 3B, fast-channel; CMS3B
Associated with:1 target
Synonyms
Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes
Database Links
Disease Ontology: DOID:3635
OMIM: 616322
Orphanet: ORPHA590, ORPHA98913

Targets

nicotinic acetylcholine receptor δ subunit
References:  2-3
Mutations:  nicotinic acetylcholine receptor δ subunit is associated with 5 mutation. Click here for details

Ligands

No ligand related data available for Myasthenic syndrome, congenital, 3B, fast-channel; CMS3B

References

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1. Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D. (2001) Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. J. Clin. Invest., 108 (1): 125-30. [PMID:11435464]

2. 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]

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. Shen XM, Fukuda T, Ohno K, Sine SM, Engel AG. (2008) Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. J. Clin. Invest., 118 (5): 1867-76. [PMID:18398509]

5. Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG. (2002) Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. Neurology, 59 (12): 1881-8. [PMID:12499478]