Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
SourceNeurology, 68, 24, (2007), pp. 2125-2128
Article / Letter to editor
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SubjectDCN 2: Functional Neurogenomics; UMCN 3.1: Neuromuscular development and genetic disorders
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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