The location of FHL1 mutations determines the presence of reducing bodies and the severity of the muscular dystrophy phenotype.
FHL1 dystrophies can be associated with MFM pathology. Mutations in the LIM2 domain are associated with reducing bodies composed of distinct tubulofilaments. A mutation extraneous to LIM domains resulted in a mild late-onset phenotype with MFM pathology but no reducing bodies.
Selcen et al. (Thu,) studied this question.