Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy

Neurology. 2002 Jan 22;58(2):323-5. doi: 10.1212/wnl.58.2.323.

Abstract

The authors describe a patient with sporadic distal myopathy associated with reduced caveolin-3 in muscle fibers in which the muscle atrophy was restricted to the small muscles of the hands and feet. Gene analysis disclosed a heterozygous 80 G-->A substitution in the caveolin-3 gene that was identical to that of reported cases of elevated serum creatine kinase. This patient further demonstrated possible clinical heterogeneity of myopathies with mutations in the caveolin-3 gene.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Substitution
  • Biopsy
  • Caveolin 3
  • Caveolins / chemistry
  • Caveolins / genetics*
  • Caveolins / metabolism
  • Child
  • Creatine Kinase / blood
  • Female
  • Humans
  • Muscle Proteins / genetics
  • Muscle Proteins / metabolism
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / metabolism
  • Muscular Dystrophies / pathology
  • Mutation

Substances

  • Caveolin 3
  • Caveolins
  • Muscle Proteins
  • Creatine Kinase