Article
Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.
Neurology - 25 Oct 2005
Madrid Ricardo E, Kubisch Christian, Hays Arthur P
Abstract excerpt
The authors describe a family with autosomal dominant rippling muscle disease (RMD) and prominent early-onset toe walking. Molecular analysis revealed a novel heterozygous G > A transition at nucleotide position 136 in exon 2 of the caveolin-3 gene (CAV3). The role of Achilles tendon lengthening in more severe forms of RMD is discussed.
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