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

A. J. van der Kooi; 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

doi:https://doi.org/10.1212/01.wnl.0000264853.40735.3b

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

A. J. van der Kooi, 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

Research output: Contribution to journal › Article › Academic › peer-review

55 Citations (Scopus)

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

Original language	English
Pages (from-to)	2125-2128
Journal	Neurology
Volume	68
Issue number	24
DOIs	https://doi.org/10.1212/01.wnl.0000264853.40735.3b
Publication status	Published - 2007

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https://doi.org/10.1212/01.wnl.0000264853.40735.3b

Cite this

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. (2007). Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. Neurology, 68(24), 2125-2128. https://doi.org/10.1212/01.wnl.0000264853.40735.3b

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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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T1 - Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families

AU - van der Kooi, A. J.

AU - Frankhuizen, W. S.

AU - Barth, P. G.

AU - Howeler, C. J.

AU - Padberg, G. W.

AU - Spaans, F.

AU - Wintzen, A. R.

AU - Wokke, J. H. J.

AU - van Ommen, G.-J. B.

AU - de Visser, M.

AU - Bakker, E.

AU - Ginjaar, H. B.

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AB - 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

U2 - https://doi.org/10.1212/01.wnl.0000264853.40735.3b

DO - https://doi.org/10.1212/01.wnl.0000264853.40735.3b

M3 - Article

C2 - 17562833

SN - 0028-3878

VL - 68

SP - 2125

EP - 2128

JO - Neurology

JF - Neurology

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