Autosomal recessive rippling muscle disease with homozygous CAV3 mutations

Ann Neurol. 2005 Feb;57(2):303-4. doi: 10.1002/ana.20350.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Base Sequence
  • Caveolin 3
  • Caveolins / genetics*
  • Child
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Diseases / genetics*
  • Mutation
  • Pedigree
  • Polymerase Chain Reaction

Substances

  • CAV3 protein, human
  • Caveolin 3
  • Caveolins