Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene

Neurology. 2003 Aug 26;61(4):562-4. doi: 10.1212/01.wnl.0000076486.57572.5c.

Abstract

The authors report a 71-year-old woman with limb-girdle muscular dystrophy (LGMD) associated with an R27Q mutation in the CAV3 gene. Immunohistochemistry showed a >90% reduction of caveolin-3 on the sarcolemma by western blot, and anti-dysferlin immunoreactivity was reduced. This case emphasizes that an R27Q missense mutation in the CAV3 gene can lead to various clinical phenotypes including hyperCKemia, rippling muscle disease, distal myopathy, and LGMD1C.

Publication types

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

MeSH terms

  • Aged
  • Amino Acid Substitution
  • Biopsy
  • Caveolin 3
  • Caveolins / genetics*
  • Creatine Kinase / blood
  • Creatine Kinase, MM Form
  • Dysferlin
  • Exons / genetics
  • Female
  • Humans
  • Isoenzymes / blood
  • Membrane Proteins*
  • Muscle Proteins / deficiency
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / enzymology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Mutation, Missense*
  • Point Mutation*
  • Polymerase Chain Reaction

Substances

  • CAV3 protein, human
  • Caveolin 3
  • Caveolins
  • DYSF protein, human
  • Dysferlin
  • Isoenzymes
  • Membrane Proteins
  • Muscle Proteins
  • Creatine Kinase
  • Creatine Kinase, MM Form