Journal
NEUROLOGY
Volume 58, Issue 2, Pages 323-325Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.58.2.323
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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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