OBO ID: DOID:0110660 |
Term Name: | congenital myasthenic syndrome 12 | Search Ontology: | |
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Definition: | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. (2) | ||
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Ontology: | Human Disease ( DOID:0110660 ) |
OTHER congenital myasthenic syndrome 12 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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