ZFIN Human Disease: congenital myasthenic syndrome 9

OBO ID: DOID:0110670

Term Name:	congenital myasthenic syndrome 9		Search Ontology:
Synonyms:	CMS9 congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. (2)
References:	OMIM:616325
Ontology:	Human Disease ( DOID:0110670 )

Relationships

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

OTHER congenital myasthenic syndrome 9 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MUSK	musk	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None