| Literature DB >> 17562833 |
A J van der Kooi1, 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.
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.Entities:
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Year: 2007 PMID： 17562833 DOI： 10.1212/01.wnl.0000264853.40735.3b
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910