title: Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene.
abstract: Limb-girdle muscular dystrophy type 2E (LGMD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in a boy with β sarcoglycanopathy are presented. An 18-month-old boy had a very high serum creatinine phosphokinase (CPK) level that was accidentally determined. The results of molecular analyses for the dystrophin gene was found to be normal. He underwent a muscle biopsy which showed dystrophic features. Immunohistochemistry showed that there was a total loss of sarcolemmal sarcoglycan complex. DNA analysis revealed a large homozygous deletion in theSCGBgene. During 4 years of follow-up, there was no evidence to predict a severe clinical course except the muscle enzyme elevation and myopathic electromyography (EMG) finding. The presented milder phenotype of LGMD-2E with a large deletion in theSGCBgene provided additional support for the clinical heterogeneity and pathogenic complexity of the disease.
authors: Neuromuscular Disease Center, Tepecik Research Hospital, İzmir, Turkey.
authors: G
authors: G
authors: Diniz
authors: Department of Pediatric Neurology, Ege University, Faculty of Medicine, İzmir, Turkey.
authors: H
authors: H
authors: Tekgul
authors: Department of Medical Genetics, Dr. Behcet Uz Children's Research Hospital, İzmir, Turkey.
authors: F
authors: F
authors: Hazan
authors: Department of Medical Genetics, Duzen Laboratories, Istanbul, Turkey.
authors: K
authors: K
authors: Yararbas
authors: Department of Medical Genetics, Duzen Laboratories, Ankara, Turkey.
authors: A
authors: A
authors: Tukun
keywords: Beta sarcoglycan (SGCB) gene; Large deletion; Muscular dystrophy (MD)