Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Biopsy
  • Cytoskeletal Proteins / metabolism*
  • DNA Mutational Analysis
  • Female
  • Humans
  • Immunohistochemistry
  • Male
  • Membrane Glycoproteins / metabolism*
  • Middle Aged
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / metabolism*
  • Sarcoglycans


  • Cytoskeletal Proteins
  • Membrane Glycoproteins
  • Sarcoglycans