Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy
- 22 January 2002
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 58 (2), 323-325
- https://doi.org/10.1212/wnl.58.2.323
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.Keywords
This publication has 10 references indexed in Scilit:
- Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophiesAnnals of Neurology, 2000
- Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophyHuman Molecular Genetics, 2000
- Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinaseNeurology, 2000
- Dysferlin is a surface membrane–associated protein that is absent in Miyoshi myopathyNeurology, 1999
- Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophyNature Genetics, 1998
- Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophyNature Genetics, 1998
- Expression of Caveolin-3 in Skeletal, Cardiac, and Smooth Muscle CellsJournal of Biological Chemistry, 1996
- VIP21/caveolin is a cholesterol-binding protein.Proceedings of the National Academy of Sciences, 1995
- Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formationJournal of the Neurological Sciences, 1981
- The Excretion of Inorganic Phosphorus in Children after the Administration of GlucoseActa Medica Scandinavica, 1951