Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation

Neurology. 2005 Oct 25;65(8):1301-3. doi: 10.1212/01.wnl.0000180963.85963.73.

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

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Achilles Tendon / pathology
  • Achilles Tendon / physiopathology
  • Adult
  • Caveolae / pathology
  • Caveolae / ultrastructure
  • Caveolin 3 / genetics*
  • Caveolin 3 / metabolism
  • Child
  • DNA Mutational Analysis
  • Exons / genetics
  • Gait Disorders, Neurologic / genetics*
  • Gait Disorders, Neurologic / physiopathology
  • Genes, Dominant / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Humans
  • Immunohistochemistry
  • Male
  • Microscopy, Electron, Transmission
  • Muscle Fibers, Skeletal / metabolism
  • Muscle Fibers, Skeletal / pathology
  • Muscle Fibers, Skeletal / ultrastructure
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Muscular Diseases / genetics*
  • Muscular Diseases / physiopathology
  • Mutation / genetics*
  • Point Mutation / genetics

Substances

  • CAV3 protein, human
  • Caveolin 3