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Updated: Jul 15, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
A novel missense mutation in the caveolin-3 gene in rippling muscle disease
Paulo J Lorenzoni1, Rosana H Scola, Natassia Vieira
1Neuromuscular/Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Rua General Carneiro 181, Curitiba PR 80060-900, Brazil.
Abstract:
Rippling muscle disease (RMD) is a benign myopathy with symptoms and signs of muscular hyperirritability. We report a 17-year-old patient who presented with muscular hypertrophy, local mounding on percussion, and a rippling phenomenon. Needle electromyography showed electrical silence during the rippling phenomenon. Muscle protein immunohistochemical analysis showed a partial deficiency of caveolin-3. Molecular analysis revealed a novel heterozygous A>C transition at nucleotide position 140 in exon 2 of the caveolin-3 gene. We associated this novel mutation with RMD.
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