ZFIN Human Disease: congenital myasthenic syndrome 10

OBO ID: DOID:0110668

Term Name:	congenital myasthenic syndrome 10		Search Ontology:
Synonyms:	CMS10 CMS1B congenital muscular dystrophy merosin-positive LGM
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. (3)
References:	OMIM:254300
Ontology:	Human Disease ( DOID:0110668 )

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 10 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DOK7	dok7a dok7b	Myasthenic syndrome, congenital, 10	254300

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None