Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

H B Ginjaar, A J van der Kooi, H Ceelie, A L Kneppers, M van Meegen, P G Barth, H F Busch, J H Wokke, L V Anderson, C G Bönnemann, M Jeanpierre, P A Bolhuis, A F Moorman, M de Visser, E Bakker, G J Ommen
Journal of Neurology 2000, 247 (7): 524-9
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 eight 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.

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