Author(s):
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Kooi, A.J. van der; Frankhuizen, W.S.; Barth, P.G.; Howeler, C.J.;
Padberg, G.W.A.M.
; Spaans, F.; Wintzen, A.R.; Wokke, J.H.J.; Ommen, G.J.B. van
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Subject:
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DCN 2: Functional Neurogenomics UMCN 3.1: Neuromuscular development and genetic disorders |
Organization:
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Neurology Radboudumc Extern |
Abstract:
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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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