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Title: Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
Author(s): 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
Publication year: 2007
Source: Neurology, vol. 68, iss. 24, (2007), pp. 2125-2128
ISSN: 0028-3878
DOI: https://doi.org/10.1212/01.wnl.0000264853.40735.3b
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/52157   https://hdl.handle.net/2066/52157

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Subject: DCN 2: Functional Neurogenomics
UMCN 3.1: Neuromuscular development and genetic disorders
Organization: Neurology
Radboudumc Extern
Journal title:
Neurology
Volume: vol. 68
Issue: iss. 24
Page start: p. 2125
Page end: p. 2128
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.

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