OBO ID: DOID:0110673 |
Term Name: | congenital myasthenic syndrome 19 | Search Ontology: | |
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Definition: | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. https://www.ncbi.nlm.nih.gov/pubmed/26626625 | ||
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Ontology: | Human Disease ( DOID:0110673 ) |
OTHER congenital myasthenic syndrome 19 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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