Clinical medicine (London, England)
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We describe the case of a young female presenting with myalgia, mildly raised creatine kinase and a rash. The discussion emphasises the importance of a systematic approach to muscle symptoms, the value of a detailed hand examination and the importance of magnetic resonance imaging in the investigation of muscular symptoms.
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Brugada syndrome is an example of a channelopathy caused by an alteration in the transmembrane ion currents that together constitute the cardiac action potential. Approximately 20% of the cases of Brugada syndrome have been shown to be associated with mutations in the gene coding for the sodium ion channel in the cell membranes of the muscle cells of the heart. ⋯ Genetic testing for Brugada syndrome is clinically available. Here we report two cases of Brugada syndrome followed by a comprehensive review of the literature.