ZFIN Human Disease: congenital myasthenic syndrome 4A

OBO ID: DOID:0110678

Term Name:	congenital myasthenic syndrome 4A		Search Ontology:
Synonyms:	CMS Ia1 CMS1A1 CMS4A congenital myasthenic syndrome 4A slow-channel congenital myasthenic syndrometype Ia1
Definition:	A congenital myasthenic syndrome characterized by 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 or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. (3)
References:	OMIM:605809
Ontology:	Human Disease ( DOID:0110678 )

Relationships

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

OTHER congenital myasthenic syndrome 4A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHRNE	chrne	Myasthenic syndrome, congenital, 4A, slow-channel	605809

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None