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Metadata
ID DOID:0110670
Name congenital myasthenic syndrome 9
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.
https://www.ncbi.nlm.nih.gov/pubmed/15496425, https://www.ncbi.nlm.nih.gov/pubmed/25792100
Xrefs

OMIM:616325

Synonyms

CMS9 [EXACT]

congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency [EXACT]

Parent Relationships

is_a congenital myasthenic syndrome

is_a autosomal recessive disease

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