OBO ID: DOID:0110678 |
Term Name: | congenital myasthenic syndrome 4A | Search Ontology: | |
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Definition: | A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. (3) | ||
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Ontology: | Human Disease ( DOID:0110678 ) |
OTHER congenital myasthenic syndrome 4A PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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