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reducing body myopathy 1A
Summary
- 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.
- Super Class
- X-linked dominant disease myopathy
External Links
- Disease Ontology
- DOID:0080090
- Mondo Disease Ontology
- OMIM
- GARD
