Key result
A novel heterozygous G>A transition at nucleotide position 136 in the caveolin-3 gene was identified in a family with autosomal dominant rippling muscle disease and early-onset toe walking.
Population
A family with autosomal dominant rippling muscle disease (RMD) and prominent early-onset toe walking.
Design
Case_report
Authors
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Identifies a novel CAV3 gene mutation associated with autosomal dominant rippling muscle disease and early-onset toe walking.
Identifies a novel CAV3 gene mutation associated with autosomal dominant rippling muscle disease and early-onset toe walking.
Madrid et al. (2005) studied this question. A novel heterozygous G>A transition at nucleotide position 136 in the caveolin-3 gene was identified in a family with autosomal dominant rippling muscle disease and early-onset toe walking.
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