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 Volume 68, Number 24, June 12, 2007
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NEUROLOGY 2007;68:2125-2128
© 2007 American Academy of Neurology

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

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

From the Department of Neurology (A.J.v.d.K., P.G.B., M.d.V.), Academic Medical Centre, University of Amsterdam; Centre for Human and Clinical Genetics (W.S.F., G.-J.B.v.O., E.B., I.B.G.) and Department of Neurology (A.R.W.), Leiden University Medical Centre; Departments of Neurology (C.J.H.) and Clinical Neurophysiology (F.S.), University Hospital Maastricht; Department of Neurology (G.W.P.), University Medical Centre St. Radboud, Nijmegen; and Department of Neurology (J.H.J.W.), University Medical Center Utrecht, the Netherlands.

Address correspondence and reprint requests to Dr van der Kooi, Department of Neurology, Academic Medical Centre, PO Box 22700, 1100 DE Amsterdam, The Netherlands a.j.kooi{at}amc.uva.nl

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.

Supplemental data at www.neurology.org

Supported by Prinses Beatrix Fonds, The Hague, The Netherlands.

Disclosure: The authors report no conflicts of interest.

Received February 27, 2006. Accepted in final form February 5, 2007.






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