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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Achilles Tendon / pathology
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Achilles Tendon / physiopathology
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Adult
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Caveolae / pathology
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Caveolae / ultrastructure
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Caveolin 3 / genetics*
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Caveolin 3 / metabolism
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Child
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DNA Mutational Analysis
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Exons / genetics
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Gait Disorders, Neurologic / genetics*
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Gait Disorders, Neurologic / physiopathology
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Genes, Dominant / genetics*
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Humans
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Immunohistochemistry
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Male
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Microscopy, Electron, Transmission
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Muscle Fibers, Skeletal / metabolism
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Muscle Fibers, Skeletal / pathology
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Muscle Fibers, Skeletal / ultrastructure
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Muscular Diseases / genetics*
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Muscular Diseases / physiopathology
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Mutation / genetics*
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Point Mutation / genetics
Substances
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CAV3 protein, human
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Caveolin 3