Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
- 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 date
January 2007
DOI Publisher
Ovid Technologies (Wolters Kluwer Health) ISSN
0028-3878 Citation count (estimate)
40Abstract
Item does not contain fulltextPheno- 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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