Human genes for reducing body myopathy 1A
Reducing body myopathy 1A [DOID:0080090]
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.
Synonyms: reducing body myopathy 1A, DOID:0080090