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Neurology. 2002 Jan 22;58(2):323-5.

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

Author information

  • 1Department of Neurology, Tohoku University School of Medicine, Sendai, Japan.

Erratum in

  • Neurology 2002 Mar 12;58(5):839. Itoyoma Y [corrected to Itoyama Y].


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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