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  • Molecular assay reagents intended to identify mutations in the caveolin 3 (CAV3) gene, located at chromosome 3p25, which encodes the protein caveolin-3. Genetic variants at this locus have been associated with familial hypertrophic cardiomyopathy 1, Tateyama distal myopathy, long QT syndrome 9, limb-girdle muscular dystrophy, type 1c, rippling muscle disease, and elevated serum creatine phosphokinase.
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