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.
M Tateyama  1 ,  M Aoki ,  I Nishino ,  Y K Hayashi ,  S Sekiguchi ,  Y Shiga ,  T Takahashi ,  Y Onodera ,  K Haginoya ,  K Kobayashi ,  K Iinuma ,  I Nonaka ,  K Arahata ,  Y Itoyama
Affiliations
  • 1. Department of Neurology, Tohoku University School of Medicine, Sendai, Japan. [email protected]
PMID: 11805270 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.