Key result
The CAV3 p.A46T mutation in 23 affected family members resulted in a homogenous, benign, and nonprogressive rippling muscle disease phenotype characterized by diagnostic PIMM and PIRC.
Population
39 members of a Swedish family with rippling muscle disease (RMD), ages 1 to 67 years
Design
Case_series
Authors
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May support PIMM and PIRC as bedside signs in this variant; leaves open generalizability beyond this kindred.
Observational (n=39)
Percussion-induced muscle mounding and rapid contractions are reliable bedside diagnostic signs for rippling muscle disease in CAV3 p.A46T mutation carriers across all ages.
Sundblom et al. (2010) conducted an observational in Rippling muscle disease (RMD) (n=39). CAV3 p.A46T mutation was evaluated on Genotype-phenotype correlation (presence of PIMM and PIRC). The CAV3 p.A46T mutation in 23 affected family members resulted in a homogenous, benign, and nonprogressive rippling muscle disease phenotype characterized by diagnostic PIMM and PIRC.
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