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

• OMIM:616323

Ontology

Human Disease   ( DOID:0110664 )