ZFIN Human Disease: congenital myasthenic syndrome 13

OBO ID: DOID:0110676

Term Name:	congenital myasthenic syndrome 13		Search Ontology:
Synonyms:	CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. (2)
References:	OMIM:614750
Ontology:	Human Disease ( DOID:0110676 )

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 13 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DPAGT1	dpagt1	Myasthenic syndrome, congenital, 13, with tubular aggregates	614750

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None