ReviewAnnals of African medicine2026
Recurrent Lower Limb Venous Thrombosis in a Young Adult with Myotonia Congenita.
Review in Annals of African medicine, 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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3 authors.
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Abstract
abstractA 20-year-old male with myotonia congenita presented with recurrent episodes of lower limb deep vein thrombosis. Initial genetic testing confirmed a homozygous mutation in the CLCN1 gene. Although rare, a possible link between congenital myotonia and venous thromboembolism (VTE) is explored in this case. Triple-positive antiphospholipid antibodies confirmed a diagnosis of thrombotic antiphospholipid syndrome, necessitating indefinite anticoagulation. Literature review highlights RNA toxicity, mis-splicing, and coagulation activation in myotonic disorders. This is the first known case correlating congenital myotonia with recurrent VTE. Early suspicion and genetic testing are crucial for timely intervention and improved outcomes.
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