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Neurology. 2007 Jun 12;68(24):2125-8.

Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.

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Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.


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.

[Indexed for MEDLINE]

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