congenital myasthenic syndrome 3C

Term ID

DOID:0110664

Synonyms

congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/16916845

References

MIM:616323

Ontology

Human Disease ( DOID:0110664 )

Relationships

is a type of: autosomal recessive disease congenital myasthenic syndrome

autosomal recessive disease congenital myasthenic syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models