LGMD1C is caused by a mutation in the caveolin 3 gene, which gives instructions to produce a protein called caveolin 3 which is important to the muscle fibres.
People with mutations in the caveolin 3 gene can present with a broad spectrum of symptoms, which are classified as limb girdle muscular dystrophy (LGMD1C), distal myopathy, Rippling muscle disease myalgia, cardiomyopathy and hyperCKaemia.
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