title: Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
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.
authors.affiliation: Department of Neurology, Tohoku University School of Medicine, Sendai, Japan. mtateyama@neurol.med.tohoku.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Tateyama
authors.forename: M
authors.initials: M
authors.lastname: Aoki
authors.forename: I
authors.initials: I
authors.lastname: Nishino
authors.forename: Y K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: S
authors.initials: S
authors.lastname: Sekiguchi
authors.forename: Y
authors.initials: Y
authors.lastname: Shiga
authors.forename: T
authors.initials: T
authors.lastname: Takahashi
authors.forename: Y
authors.initials: Y
authors.lastname: Onodera
authors.forename: K
authors.initials: K
authors.lastname: Haginoya
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: K
authors.initials: K
authors.lastname: Iinuma
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: K
authors.initials: K
authors.lastname: Arahata
authors.forename: Y
authors.initials: Y
authors.lastname: Itoyama
authors.forename: Y
authors.initials: Y
authors.lastname: Itoyoma
mesh_terms: 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
chemical_list: D051244:Caveolin 3; D022461:Caveolins; D009124:Muscle Proteins; D003402:Creatine Kinase