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: α-, β-, and γ,-sarcoglycans. Abnormal sarcoglycan expression was established in eight patients, with six affected sibs. In one patient γ-sarcoglycan was absent, and both α- and β-sarcoglycans were reduced. In the remaining seven patients γ-sarcoglycan was (slightly) reduced, and α- and β-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 α-, three in the β-, and two in the γ-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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Received: 11 November 1999, Received in revised form: 27 January 2000, Accepted: 29 February 2000
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Ginjaar, H., van der Kooi, A., Ceelie, H. et al. Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. J Neurol 247, 524–529 (2000). https://doi.org/10.1007/s004150070151
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DOI: https://doi.org/10.1007/s004150070151