Search Ontology:
Human Disease
congenital myasthenic syndrome 2C
- Term ID
- DOID:0110680
- Synonyms
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- 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
- Ontology
- Human Disease ( DOID:0110680 )
- is a type of
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Genes Involved
Zebrafish Models