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Metadata
ID DOID:0110680
Name congenital myasthenic syndrome 2C
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.
https://www.ncbi.nlm.nih.gov/pubmed/10562302, https://www.ncbi.nlm.nih.gov/pubmed/25792100
Xrefs

OMIM:616314

Synonyms

CMS2C [EXACT]

congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency [EXACT]

Parent Relationships

is_a congenital myasthenic syndrome

is_a autosomal recessive disease

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