Key result
A novel heterozygous A>C transition at nucleotide position 140 in exon 2 of the caveolin-3 gene was associated with rippling muscle disease in a 17-year-old patient.
Population
17-year-old patient with rippling muscle disease presenting with muscular hypertrophy, local mounding on…
Design
Case_report
Authors
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Suggests a novel CAV3 variant may underlie rippling muscle disease; hypothesis-generating and should not alter practice without replication.
Case Report (n=1)
Identified a novel missense mutation in the caveolin-3 gene associated with rippling muscle disease.
Lorenzoni et al. (2007) conducted a case report in Rippling muscle disease (n=1). Heterozygous A>C transition in exon 2 of the caveolin-3 gene was evaluated. A novel heterozygous A>C transition at nucleotide position 140 in exon 2 of the caveolin-3 gene was associated with rippling muscle disease in a 17-year-old patient.
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