reducing body myopathy 1A

Term ID

DOID:0080090

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. https://pubmed.ncbi.nlm.nih.gov/17099882/

References

• GARD:12162
• MIM:300717

Ontology

Human Disease   ( DOID:0080090 )