ZFIN Human Disease: congenital myasthenic syndrome 2A

OBO ID: DOID:0110681

Term Name:	congenital myasthenic syndrome 2A		Search Ontology:
Synonyms:	CMS2A congenital myasthenic syndrome 2A slow-channel
Definition:	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (2)
References:	OMIM:616313
Ontology:	Human Disease ( DOID:0110681 )

Relationships

is a type of:	autosomal dominant disease congenital myasthenic syndrome autosomal dominant disease congenital myasthenic syndrome Show first 5 Terms

OTHER congenital myasthenic syndrome 2A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHRNB1	chrnb1	Myasthenic syndrome, congenital, 2A, slow-channel	616313

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None