Rippling muscle disease

J Clin Neurosci. 2006 Jun;13(5):576-8. doi: 10.1016/j.jocn.2005.06.015. Epub 2006 May 24.

Abstract

A case of rippling muscle disease is presented and features of this rare condition, and its association with caveolin-3 are discussed.

Publication types

  • Case Reports

MeSH terms

  • Caveolin 3 / deficiency
  • Caveolin 3 / genetics*
  • Female
  • Humans
  • Middle Aged
  • Muscle Rigidity / diagnosis
  • Muscle Rigidity / genetics
  • Muscle Rigidity / metabolism
  • Muscular Diseases / diagnosis*
  • Muscular Diseases / genetics*
  • Muscular Diseases / metabolism
  • Point Mutation / genetics

Substances

  • CAV3 protein, human
  • Caveolin 3