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  • reducing body myopathy 1B (en)
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  • DOID:0080687
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  • OMIM:300718
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  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
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