Key result
The A92T mutation of the caveolin-3 gene in a family of five resulted in highly variable phenotypic features of rippling muscle disease, including inconsistent patterns of muscle weakness.
Case Report (n=5)
The A92T mutation in the caveolin-3 gene can present with considerable phenotypic variability in rippling muscle disease even within the same family.
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Intrafamilial variability with A92T caveolin-3 mutation may complicate rippling muscle disease diagnosis; leaves open modifier identification.
We report a family with rippling muscle disease (RMD) who had an autosomal dominant mode of inheritance. The father, mother, and one daughter proved to be heterozygous, and two sons were homozygous for the A92T mutation of the caveolin-3 gene. The cardinal features of RMD, particularly percussion-induced rapid contractions, muscle mounding, and muscle rippling, varied considerably among these subjects. Moreover, all examined individuals showed muscle weakness; however, the patterns were inconsistent.
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Jacobi et al. (2009) conducted a case report in Rippling muscle disease (RMD) (n=5). A92T mutation of the caveolin-3 gene was evaluated on Phenotypic features (percussion-induced rapid contractions, muscle mounding, muscle rippling, muscle weakness). The A92T mutation of the caveolin-3 gene in a family of five resulted in highly variable phenotypic features of rippling muscle disease, including inconsistent patterns of muscle weakness.
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