{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T16:30:50Z","timestamp":1778862650263,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,5,10]],"date-time":"2012-05-10T00:00:00Z","timestamp":1336608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Introduction:<\/jats:italic> Caveolin\u20103 is a major component of the caveolae in skeletal and cardiac muscle.Mutations in the caveolin\u20103 gene (<jats:italic>CAV3<\/jats:italic>) lead to a spectrum of clinical phenotypes including limb\u2010girdle muscular dystrophy 1C, distal myopathy, rippling muscle disease, isolated hyperCKemia, and cardiomyopathy. <jats:italic>Case Report:<\/jats:italic> A 24\u2010year\u2010old man with myalgia, muscle stiffness, and fatigue has normal strength and prominent myotonic discharges in the gastrocnemius. He also has epilepsy. He harbors a heterozygous <jats:italic>CAV3<\/jats:italic> mutation, p.V57M. He has no mutations in <jats:italic>CLCN1<\/jats:italic> and <jats:italic>SCN4A<\/jats:italic>, and he had normal genetic testing for myotonic dystrophy type 1 and type 2. <jats:italic>Conclusions:<\/jats:italic> Mutations in <jats:italic>CAV3<\/jats:italic>, and in particular p.V57M in <jats:italic>CAV3<\/jats:italic>, previously reported in isolated familial hyperCKemia, can be associated with electrical myotonia. 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