A new missense mutation in caveolin-3 gene causes rippling muscle disease

J Neurol Sci. 2006 Apr 15;243(1-2):61-4. doi: 10.1016/j.jns.2005.11.032. Epub 2006 Feb 3.

Abstract

Mutations of the Cav-3 gene are associated with distinct, sometimes overlapping muscle disease phenotypes. We report a new Italian family with autosomal dominant rippling muscle disease. Immunocytochemical analysis of muscle showed a deficit of caveolin-3 protein and molecular genetic analysis showed a novel mutation of the Cav-3 gene.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Caveolae / metabolism
  • Caveolae / pathology
  • Caveolae / ultrastructure
  • Caveolin 3 / deficiency
  • Caveolin 3 / genetics*
  • Chromosome Disorders / genetics
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Humans
  • 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 / metabolism
  • Muscular Diseases / physiopathology
  • Mutation, Missense / genetics*

Substances

  • Caveolin 3