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Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

Lookup NU author(s): Dr Louise VB Anderson

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Abstract

Within a group of 76 sporadic/autosomal recessive limb girdle muscular dystrophy (LGMD) patients we tried to identify those with LGMD type 2C-E. Muscle biopsy specimens of 40 index patients, who had 22 affected sibs, were analyzed immuno-histochemically for the presence of three subunits: alpha-, beta-. and gamma-sarcoglycans. Abnormal sarcoglycan expression was established in right patients, with six affected sibs. In one patient gamma-sarcoglycan was absent, and both alpha- and beta-sarcoglycans were reduced. In the remaining seven patients gamma-sarcoglycan was (slightly) reduced, and alpha- and beta-sarcoglycans were absent or reduced. By DNA sequencing mutations were detected in one of the three sarcoglycan genes in all eight cases. Three patients had mutations in the alpha-, three in the beta-, and two in the gamma-sarcoglycan gene. The patients with sarcoglycanopathy comprised the more severely affected cases (P=0.04). In conclusion, sarcoglycanopathy was identified in 23 % (14/62) of the autosomal recessive LGMD patients.

Publication metadata

Author(s): Anderson LVB; Ginjaar HB; van der Kooi AJ; Ceelie H; Kneppers ALJ; van Meegen M; Barth PG; Busch HFM; Wokke JHJ; Bonnemann CG; Jeanpierre M; Bolhuis PA; Moorman AFM; de Visser M; Bakker E; Von Ommen GJB

Publication type: Article

Publication status: Published

Journal: Journal of Neurology

Year: 2000

Volume: 247

Issue: 7

Pages: 524-529

ISSN (print): 0340-5354

ISSN (electronic): 1432-1459

Publisher: Dr Dietrich Steinkopff Verlag

URL: http://dx.doi.org/10.1007/s004150070151

DOI: 10.1007/s004150070151

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