ZFIN Human Disease: congenital myasthenic syndrome 12

OBO ID: DOID:0110660

Term Name:	congenital myasthenic syndrome 12		Search Ontology:
Synonyms:	CMS12 congenital myasthenia 12 with tubular aggregates
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. (2)
References:	OMIM:610542
Ontology:	Human Disease ( DOID:0110660 )

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 12 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GFPT1	gfpt1	Myasthenia, congenital, 12, with tubular aggregates	610542

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None