Key result
A novel heterozygous C82A missense mutation in the CAV3 gene (Pro28Thr) was identified as the cause of autosomal dominant rippling muscle disease in a Belgian family.
Population
Belgian family with autosomal dominant rippling muscle disease, including a 40-year-old woman and her mother.
Design
Case_report
Authors
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Adds novel CAV3 variant to rippling muscle disease etiology; hypothesis-generating and should not yet change clinical genetic testing.
Case Report (n=2)
Identifies a novel CAV3 missense mutation (Pro28Thr) as a cause of autosomal dominant rippling muscle disease.
Peter Van den Bergh (2004) conducted a case report in Rippling muscle disease (n=2). Heterozygous C82A transversion in the CAV3 gene (Pro28Thr) was evaluated on Clinical and genetic characterization. A novel heterozygous C82A missense mutation in the CAV3 gene (Pro28Thr) was identified as the cause of autosomal dominant rippling muscle disease in a Belgian family.
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