Abstract
Pheno- and genotype correlation is attempted in a Dutch cross-sectional study on limb- girdle muscular dystrophy. Sarcoglycans, caveolin-3, calpain-3, and dysferlin were analyzed on muscle tissue. Mutation analysis of the calpain-3, caveolin-3, and fukutin-related protein gene was executed in successive order for all samples. In 51% of all families a classifying diagnosis was made. Several new mutations in LGMD2A, B, and C patients have been found in this population.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Calpain / genetics
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Caveolin 3 / genetics
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Chromosome Mapping
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Cross-Sectional Studies
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DNA Mutational Analysis
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Dysferlin
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Female
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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Humans
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Male
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Membrane Proteins / genetics
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Middle Aged
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Muscle Proteins / genetics*
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Muscle, Skeletal / metabolism*
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Muscle, Skeletal / physiopathology
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Muscular Dystrophies, Limb-Girdle / genetics*
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Mutation / genetics*
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Netherlands
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Pentosyltransferases
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Phenotype
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Proteins / genetics
Substances
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CAV3 protein, human
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Caveolin 3
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DYSF protein, human
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Dysferlin
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Membrane Proteins
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Muscle Proteins
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Proteins
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FKRP protein, human
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Pentosyltransferases
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CAPN3 protein, human
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Calpain