Myasthenic syndrome, congenital, 16; CMS16

Disease ID:652
Name:Myasthenic syndrome, congenital, 16; CMS16
Associated with:1 target
Synonyms
Congenital myasthenic syndrome | Myasthenic syndrome, congenital, acetazolamide-responsive | Postsynaptic congenital myasthenic syndromes
Database Links
Disease Ontology: DOID:3635
OMIM: 614198
Orphanet: ORPHA98913, ORPHA590

Targets

Nav1.4
Mutations:  Nav1.4 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Myasthenic syndrome, congenital, 16; CMS16

References

Show »

1. Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG. (2003) Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc. Natl. Acad. Sci. U.S.A., 100 (12): 7377-82. [PMID:12766226]