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Metadata
ID DOID:0110664
Name congenital myasthenic syndrome 3C
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
Xrefs

MIM:616323
Synonyms

congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency [EXACT]
Parent Relationships

is_a congenital myasthenic syndrome

is_a autosomal recessive disease
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