|OBO ID: DOID:0110676|
|Term Name:||congenital myasthenic syndrome 13||Search Ontology:|
|Definition:||A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. (2)|
|Ontology:||Human Disease (DOID:0110676)|
|is a type of:||
OTHER congenital myasthenic syndrome 13 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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