Ginjaar H B, van der Kooi A J, Ceelie H, Kneppers A L, van Meegen M, Barth P G, Busch H F, Wokke J H, Anderson L V, Bönnemann C G, Jeanpierre M, Bolhuis P A, Moorman A F, de Visser M, Bakker E, Ommen G J
Department of Human Genetics, Leiden University Medical Centre, The Netherlands.
J Neurol. 2000 Jul;247(7):524-9. doi: 10.1007/s004150070151.
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.
