Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 24/10/2005

Symbol	CMS2A
Location	17p13.1
Name	congenital myasthenic syndrome, type IIB
Corresponding gene	CHRNB1
Other symbol(s)	SCCMS
Main clinical features	severe slow-channel syndrome postsynaptic form, with selective involvement of cervical, scapular, and finger extensor muscles and ophthalmoparesis from infancy or early childhood
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	cholinergic receptor, nicotinic, beta polypeptide (CHRNB1)

Remark(s)