OBO ID: DOID:0110935 |
Term Name: | nemaline myopathy 6 | Search Ontology: | |
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Definition: | A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. https://www.ncbi.nlm.nih.gov/pubmed/21109227 | ||
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Ontology: | Human Disease ( DOID:0110935 ) |
OTHER nemaline myopathy 6 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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