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.
journal_name
Neurologyjournal_title
Neurologyauthors
Tateyama M,Aoki M,Nishino I,Hayashi YK,Sekiguchi S,Shiga Y,Takahashi T,Onodera Y,Haginoya K,Kobayashi K,Iinuma K,Nonaka I,Arahata K,Itoyama Ydoi
10.1212/wnl.58.2.323subject
Has Abstractpub_date
2002-01-22 00:00:00pages
323-5issue
2eissn
0028-3878issn
1526-632Xjournal_volume
58pub_type
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