Key result
A heterozygous variant c.80G>A in the CAV3 gene was identified in all 12 patients with rippling muscle disease, who presented with childhood-onset exercise intolerance, muscle stiffness, and myalgia.
Why the study?
There is a lack of systematic understanding of the phenotypic spectrum of rippling muscle disease.
Population
12 patients with rippling muscle disease from two families
Design
Family-based observational study and literature review
Authors
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Adds descriptive RMD data; leaves open need for prospective genotype-phenotype validation before clinical adoption.
Observational (n=12)
The identification of the CAV-3 c.80G>A variant in 12 Chinese patients expands the clinical and genetic spectrum of Rippling muscle disease.
Shen et al. (2025) conducted an observational in Rippling muscle disease (n=12). CAV-3 c.80G>A variant was evaluated on Clinical, electromyographical, and pathological features. A heterozygous variant c.80G>A in the CAV3 gene was identified in all 12 patients with rippling muscle disease, who presented with childhood-onset exercise intolerance, muscle stiffness, and myalgia.
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