G.P.226

Limb-girdle muscular dystrophy type 2E (LGMD-2E) is caused by autosomal recessive defects in the beta-sarcoglycan gene located on chromosome 4q12. In this study, the clinical findings, histopathological features and molecular genetic data in a boy with beta-sarcoglycanopathy are presented. An eighteen-month-old boy had a very high serum creatinine phosphokinase level, which was determined incidentally. He had consanguineous parents. The result of molecular analyses for dystrophin gene was found normal. He underwent a muscle biopsy which showed dystrophic features. Immunohistochemistry showed that, there was a total loss of sarcolemmal sarcoglycan complex (alpha, beta, delta and gamma sarcoglycans) while sarcolemmal dystrophin expression was normal. DNA analysis revealed a huge deletion in the beta-sarcoglycan gene. The deletion was homozygous and occurred from exon 1 to 6. This study demonstrated that the total absence or abnormal expressions of all 4 sarcoglycans are more likely to indicate a primary defect in the beta sarcoglycan gene.