congenital myasthenic syndrome 4C

Term ID

DOID:0110679

Synonyms

• CMS Id
• CMS1D
• CMS4C
• congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency
• congenital myasthenic syndrome type Id
• FIM1

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 homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (2)

References

• OMIM:608931

Ontology

Human Disease   ( DOID:0110679 )