congenital myasthenic syndrome 2C

Term ID

DOID:0110680

Synonyms

• CMS2C
• congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (2)

References

• OMIM:616314

Ontology

Human Disease   ( DOID:0110680 )