OBO ID: DOID:0080687 |
Term Name: | reducing body myopathy 1B | Search Ontology: | |
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Definition: | A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. https://pubmed.ncbi.nlm.nih.gov/18952429/ | ||
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Ontology: | Human Disease ( DOID:0080687 ) |
OTHER reducing body myopathy 1B PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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