Key result
Seven children with caveolin-3 gene mutations presented with rippling muscle disease characterized by frequent falls, calf hypertrophy, elevated creatine kinase, and rapid muscle contractions.
Population
7 children with rippling muscle disease owing to mutations in the caveolin-3 gene
Design
Case_series
Authors
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May prompt caveolin-3 testing in children with muscle rippling; extends adult-onset descriptions but remains hypothesis-generating.
Case Report (n=7)
Rippling muscle disease, a caveolinopathy typically described in adulthood, can present in early childhood with distinct clinical symptoms such as frequent falls, calf hypertrophy, and percussion-induced rapid contractions.
Schara et al. (2002) conducted a case report in Rippling muscle disease (n=7). Caveolin-3 gene mutation was evaluated on Clinical symptoms. Seven children with caveolin-3 gene mutations presented with rippling muscle disease characterized by frequent falls, calf hypertrophy, elevated creatine kinase, and rapid muscle contractions.
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