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Article

Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.

Neurology - 12 Jun 2007

van der Kooi A J, Frankhuizen W S, Barth P G, Howeler C J, Padberg G W, Spaans F, Wintzen A R, Wokke J H J, van Ommen G-J B, de Visser M, Bakker E, Ginjaar H B

Abstract excerpt

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...

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Identifiers

PMID: 17562833
DOI: 10.1212/01.wnl.0000264853.40735.3b

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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