congenital myasthenic syndrome 1B

Term ID

DOID:0110662

Synonyms

CMS1B
congenital myasthenic syndrome 1B, fast-channel

Definition

A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (3)

References

OMIM:608930

Ontology

Human Disease ( DOID:0110662 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease congenital myasthenic syndrome

autosomal dominant disease autosomal recessive disease congenital myasthenic syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations