Term Name: | reducing body myopathy 1A |
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Synonyms: | |
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 infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. |
Ontology: | Human Disease [DOID:0080090] ( DOID:0080090 ) |