Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
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.
Tateyama
M
M
Department of Neurology, Tohoku University School of Medicine, Sendai, Japan. mtateyama@neurol.med.tohoku.ac.jp
Aoki
M
M
Nishino
I
I
Hayashi
Y K
YK
Sekiguchi
S
S
Shiga
Y
Y
Takahashi
T
T
Onodera
Y
Y
Haginoya
K
K
Kobayashi
K
K
Iinuma
K
K
Nonaka
I
I
Arahata
K
K
Itoyama
Y
Y
Itoyoma
Y
Y
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D001706:Biopsy; D051244:Caveolin 3; D022461:Caveolins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D002648:Child; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009154:Mutation
D051244:Caveolin 3; D022461:Caveolins; D009124:Muscle Proteins; D003402:Creatine Kinase