Abstract
Caveolin-3 deficiency is a rare, autosomal dominant, muscle disorder caused by caveolin-3 gene (CAV3) mutations and consists of four clinical phenotypes: limb-girdle muscular dystrophy type 1C (LGMD-1C), rippling muscle disease, distal myopathy, and familial hyperCKemia. So far, only 13 mutations have been reported. We here report two novel heterozygous mutations, 96C>G (N32K) and 128T>A (V43E), in the CAV3 gene in two unrelated Japanese families with LGMD-1C. Both probands presented with elevated serum CK level with calf muscle hypertrophy in their childhood but without apparent muscle weakness. However, their mothers showed mild limb-girdle weakness in addition to high CK level. Caveolin-3 was deficient and caveolae were lacking in muscles from both patients. Our data confirm that caveolin-3 deficiency causes LGMD-1C and expand the variability in CAV3 gene mutations.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Caveolin 3
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Caveolins / deficiency*
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Caveolins / genetics*
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Child
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Child, Preschool
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Creatine Kinase / metabolism
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DNA Mutational Analysis
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Dysferlin
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Dystrophin / metabolism
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Family Health
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Female
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Genes, Dominant
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genetic Variation / genetics
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Humans
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Hypertrophy / genetics
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Hypertrophy / pathology
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Japan
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Male
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Membrane Proteins / metabolism
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Microscopy, Electron, Transmission
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Middle Aged
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Muscle Proteins / metabolism
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Muscle, Skeletal / metabolism*
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Muscle, Skeletal / pathology
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Muscle, Skeletal / ultrastructure
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Muscular Dystrophies, Limb-Girdle / genetics*
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Muscular Dystrophies, Limb-Girdle / metabolism
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Muscular Dystrophies, Limb-Girdle / pathology
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Mutation, Missense / genetics*
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Up-Regulation / genetics
Substances
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Caveolin 3
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Caveolins
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DYSF protein, human
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Dysferlin
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Dystrophin
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Membrane Proteins
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Muscle Proteins
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Creatine Kinase