Key result
A de novo CAV3 missense mutation (Arg26Gln) was identified as the cause of sporadic rippling muscle disease, demonstrating that CAV3 mutations can occur without a positive family history.
Case Report (n=1)
Sporadic rippling muscle disease can be caused by de novo CAV3 mutations, demonstrating that these mutations occur even without a positive family history.
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May warrant CAV3 testing in sporadic rippling muscle disease; extends de novo mutation evidence but remains hypothesis-generating.
OBJECTIVE: To determine the cause of sporadic rippling muscle disease (RMD) in a 24-year-old patient. BACKGROUND: RMD is a rare myopathy characterized by percussion-induced rapid muscle contractions (PIRC), muscle mounding, and rippling waves. We have recently found that autosomal dominant RMD is caused by mutations in the caveolin-3 gene (CAV3) on chromosome 3p25. Possibly, increased activity of neuronal nitric oxide synthase (nNOS) contributes to the clinical characteristics of increased mechanical muscle hyperexcitability. METHODS: Clinical examination, mutational analysis, and immunohistochemistry of muscle tissue were performed in a patient with sporadic RMD. RESULTS: The authors observed a de novo CAV3 missense mutation Arg26Gln. Immunohistochemistry showed reduced caveolin-3 surface expression in a muscle biopsy. In addition, the authors found normal sarcolemmal nNOS expression and a reduced expression of alpha-dystroglycan in muscle fibers. CONCLUSIONS: These data confirm that RMD is caused by CAV3 mutations. Moreover, there is evidence that CAV3 mutations may also be found in patients without a positive family history of RMD.
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Vorgerd et al. (2001) conducted a case report in Sporadic rippling muscle disease (RMD) (n=1). CAV3 missense mutation Arg26Gln was evaluated on Cause of sporadic RMD determined by mutational analysis and immunohistochemistry. A de novo CAV3 missense mutation (Arg26Gln) was identified as the cause of sporadic rippling muscle disease, demonstrating that CAV3 mutations can occur without a positive family history.
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