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Neuromuscul Disord. 2006 Jul;16(7):432-6. Epub 2006 May 26.

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.

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  • 1Department of Neurology, Friedrich-Baur-Institute, Lab. for Molecular Myology, Ludwig-Maximilians-University, Marchioninistr. 17, 81377 Munich, Germany.


Mutations in CAV3 gene encoding the protein caveolin-3 are associated with autosomal dominant limb girdle muscular dystrophy 1C, rippling muscle disease, hyperCKemia, distal myopathy, hypertrophic cardiomyopathy and rare autosomal recessive limb girdle muscular dystrophy phenotypes. In a 57-year-old patient with asymmetric limb girdle weakness, we detected a novel homozygous intronic mutation (IVS1 + 2T > C) of the CAV3 gene. This is the first splicing mutation reported for CAV3. These findings add to the clinical and genetic variability of CAV3 mutations.

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