Abstract
Mutations of the Cav-3 gene are associated with distinct, sometimes overlapping muscle disease phenotypes. We report a new Italian family with autosomal dominant rippling muscle disease. Immunocytochemical analysis of muscle showed a deficit of caveolin-3 protein and molecular genetic analysis showed a novel mutation of the Cav-3 gene.
MeSH terms
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Adult
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Aged
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Caveolae / metabolism
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Caveolae / pathology
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Caveolae / ultrastructure
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Caveolin 3 / deficiency
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Caveolin 3 / genetics*
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Chromosome Disorders / genetics
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DNA Mutational Analysis
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Female
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Genes, Dominant / genetics
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Humans
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Male
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Microscopy, Electron, Transmission
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Muscle Fibers, Skeletal / metabolism
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Muscle Fibers, Skeletal / pathology
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Muscle Fibers, Skeletal / ultrastructure
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Muscle, Skeletal / metabolism*
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Muscular Diseases / genetics*
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Muscular Diseases / metabolism
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Muscular Diseases / physiopathology
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Mutation, Missense / genetics*