Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
cross_sectional · Level IV
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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.
Medical subject headings
- Genetic Predisposition to Disease
- Muscle Proteins
- Muscle, Skeletal
- Muscular Dystrophies, Limb-Girdle
- Mutation