ArticleCureus2026
Novel FHL1 Mutation Associated With Reducing Body Myopathy.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
4 authors.
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Abstract
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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