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Hercules Appearance in Myotonia Congenita Myotonia congenita (Thomsen and Becker types) is a hereditary myotonic disorder caused by mutations in the CLCN1 gene, leading to impaired chloride channels in skeletal muscle. One classic clinical feature is the “Hercules appearance” or “Herculean body habitus.” --- What is the Hercules Appearance? This refers to the unusually well-developed, muscular, athletic build seen in many patients with myotonia congenita, especially the Becker variant. Patients
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