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  • Title: Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.
    Author: Madrid RE, Kubisch C, Hays AP.
    Journal: Neurology; 2005 Oct 25; 65(8):1301-3. PubMed ID: 16247063.
    Abstract:
    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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