Key result
Novel FHL1 variant links to reducing body myopathy in a woman with progressive proximal weakness.
Case Report (n=1)
No
This case expands the genotypic spectrum of Reducing Body Myopathy by identifying a novel FHL1 mutation and highlights the diagnostic value of repeated muscle biopsy.
May support repeat biopsy in unexplained myopathies; leaves open broader diagnostic yield for FHL1 variants.
Reducing body myopathy (RBM) is a rare X-linked myopathy caused by mutations in the FHL1 gene and characterized by intracytoplasmic aggregates that reduce menadione nitroblue tetrazolium. We report a 45-year-old female presenting with progressive proximal weakness of unknown etiology. Prior muscle biopsy and genetic testing were non-diagnostic. By repeating her muscle biopsy in a different muscle, we were able to correlate the biopsy findings with her genetic variant previously described as a variant of unknown significance. This is the first reported case of possible RBM associated with FHL1 c.401A>C (p.Gln134Pro). The case expands the genotypic spectrum of RBM and underscores the diagnostic value of repeated muscle biopsy.
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Ruffing et al. (2026) conducted a case report in Reducing Body Myopathy (n=1). A novel FHL1 c.401A>C (p.Gln134Pro) variant was identified in a 45-year-old woman with progressive proximal weakness, suggesting a possible association with reducing body myopathy.
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