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Human Disease
congenital myasthenic syndrome 9
- Term ID
- DOID:0110670
- Synonyms
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- CMS9
- congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. (2)
- References
- Ontology
- Human Disease ( DOID:0110670 )
- is a type of
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