2. Academic Validation
  3. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy

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

Affiliation

  • 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.

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