Key result
A large homozygous deletion in the SGCB gene caused a total loss of the sarcolemmal sarcoglycan complex but resulted in a milder clinical phenotype of LGMD-2E over 4 years of follow-up.
Case Report (n=1)
This case report highlights the clinical heterogeneity of LGMD-2E, demonstrating a milder phenotype despite a large deletion in the SGCB gene.
Alerts clinicians to sarcoglycanopathies in isolated pediatric hyperCKemia; leaves open need for larger genotype-phenotype studies.
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 the SCGB gene. 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 the SGCB gene provided additional support for the clinical heterogeneity and pathogenic complexity of the disease.
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Dınız et al. (2015) conducted a case report in Limb-girdle muscular dystrophy type 2E (LGMD-2E) (n=1). Large homozygous deletion in the SGCB gene was evaluated on Clinical and histopathological phenotype. A large homozygous deletion in the SGCB gene caused a total loss of the sarcolemmal sarcoglycan complex but resulted in a milder clinical phenotype of LGMD-2E over 4 years of follow-up.
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