Article
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
Neurology - 22 Jan 2002
Tateyama M, Aoki M, Nishino I, Hayashi Y K, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y, Itoyoma Y
Abstract excerpt
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...
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