ZFIN Human Disease: congenital myasthenic syndrome 1A

OBO ID: DOID:0110663

Term Name:	congenital myasthenic syndrome 1A		Search Ontology:
Synonyms:	CMS IIa CMS1A CMS2A congenital myasthenic syndrome 1A, slow-channel congenital myasthenic syndrome type IIa
Definition:	A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (2)
References:	OMIM:601462
Ontology:	Human Disease ( DOID:0110663 )

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 1A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHRNA1	chrna1	Myasthenic syndrome, congenital, 1A, slow-channel	601462

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None