JOURNAL ARTICLE

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

A J van der Kooi, W S Frankhuizen, P G Barth, C J Howeler, G W Padberg, F Spaans, A R Wintzen, J H J Wokke, G-J B van Ommen, M de Visser, E Bakker, H B Ginjaar
Neurology 2007 June 12, 68 (24): 2125-8
17562833
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.

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