Summary Literature (0)

DOID:0110668 - congenital myasthenic syndrome 10

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal 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 4p.

Synonyms: CMS Ib, CMS10, CMS1B, LGM, congenital myasthenic syndrome type Ib, familial limb-girdle myasthenia,

Echinobase Genes :


OMIM:

MIM:254300 - myasthenia, limb-girdle, familial

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee